CRPPA Chromosome 7

CDP-L-ribitol pyrophosphorylase A
99 variants 99 Health Risk

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
RS886043573 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
RS886044356 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1282788711 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1554300301 Health Risk Likely pathogenic —
RS1583487698 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1784247205 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2128321556 Health Risk Likely pathogenic —
RS2546639442 Health Risk Likely pathogenic —
RS2546749070 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS376411072 Health Risk Likely pathogenic —
RS776803163 Health Risk Likely pathogenic CRPPA-related disorder, CRPPA-related disorder
RS1157302803 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1418861315 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1420940583 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1453431411 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1466219701 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1554291235 Health Risk Pathogenic —
RS1554300194 Health Risk Pathogenic —
RS1554305719 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1554320168 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2128321525 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Autosomal recessive limb-girdle muscular dystrophy type 2U
RS2128321527 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2128422954 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2546652810 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2546749179 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2546759145 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2546759287 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS2546759308 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS368593151 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS370499190 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS370627877 Health Risk Pathogenic ISPD-related disorder, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS387907160 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS387907161 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS387907162 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS397514547 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS397514548 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS397515396 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS397515397 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS397515408 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS587777797 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Autosomal recessive limb-girdle muscular dystrophy type 2U
RS748007203 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS781097746 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS886042554 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1048457038 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS1554371369 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS587777798 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS767978961 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS773325665 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
RS886041302 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
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