CRPPA Chromosome 7
CDP-L-ribitol pyrophosphorylase A
Upload your DNA to see your personal genotypes for variants in CRPPA.
What This Gene Does
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Associated Conditions (12)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A
7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Congenital Muscular Dystrophy
alpha-dystroglycan related
ISPD-related disorder
CRPPA-related disorder
Muscular dystrophy-dystroglycanopathy
Congenital muscular dystrophy due to integrin alpha-7 deficiency
type a
8
Key Variants
RS1008210645
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Health Risk
RS1202301143
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Health Risk
RS1289931198
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS1325845862
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Health Risk
RS141363557
Conflicting classifications of pathogenicity
Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS1466053365
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS1472549168
Conflicting classifications of pathogenicity
ISPD-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS148054819
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS1562603622
Conflicting classifications of pathogenicity
Health Risk
RS181099904
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Health Risk
RS183141256
Conflicting classifications of pathogenicity
Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2U
Health Risk
RS185594460
Conflicting classifications of pathogenicity
Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
All Variants (99)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008210645 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS1202301143 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS1289931198 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1325845862 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS141363557 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1466053365 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1472549168 | Health Risk | Conflicting classifications of pathogenicity | ISPD-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS148054819 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1562603622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181099904 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS183141256 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS185594460 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS186882839 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS199790485 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS200334999 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS200836986 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS201334104 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS368815582 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS370052768 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS371300262 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS373134516 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS375132134 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS375514450 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS376195897 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS376232862 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS376909665 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS377582530 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS397515398 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS532057629 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS558064127 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS566179705 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS571551238 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS752622525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752817129 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS754223084 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS757165158 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS761842188 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS763209907 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS765435429 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS766874330 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS770257307 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS773390529 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS773739293 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS774324906 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780620823 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS794726893 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS886042445 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS886042759 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS886043287 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| RS886043337 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |