FKRP Chromosome 19
Fukutin related protein
Upload your DNA to see your personal genotypes for variants in FKRP.
What This Gene Does
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
Associated Conditions (27)
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development)
type B
5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
FKRP-related disorder
Myopathy caused by variation in FKRP
Autosomal recessive limb-girdle muscular dystrophy
type A1
Intellectual disability
Abnormality of the musculature
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy
Acute rhabdomyolysis
Limb-girdle muscular dystrophy
8 conditions
+7 more conditions
Key Variants
RS104894679
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B
Health Risk
RS104894680
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B
Health Risk
RS104894683
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
Health Risk
RS1054339656
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1060502111
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1215872713
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1267805674
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5
Health Risk
RS1288927267
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1300365457
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Myopathy caused by variation in FKRP, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1349031936
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I
Health Risk
RS140084192
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype
Health Risk
RS140217866
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
All Variants (233)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS762283381 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS764527541 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS764641619 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype |
| RS768007208 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype |
| RS768215450 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS769005880 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS77138370 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
| RS771793862 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS781414509 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS794727651 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS797045576 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS911700598 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS921883036 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS936866997 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
| RS963039919 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS990847012 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype |
| RS104894684 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1181528755 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1191737604 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1229287051 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1318972801 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1398034977 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1450841129 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1483781400 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738149 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738245 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738311 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738456 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738502 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1555738568 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738675 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555738823 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555739041 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1555739333 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I |
| RS1599938271 | Health Risk | Likely pathogenic | — |
| RS2054921636 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2054927620 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2122609879 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2122609947 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2122636612 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS2513984206 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS2513984618 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513984718 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513984831 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513986660 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513987580 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513988220 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513989220 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2513989754 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2513990210 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |