Gene entry
CRPPA
CDP-L-ribitol pyrophosphorylase A
- Chromosome
- 7
- Cytoband
- 7p21.2
- Variants (rsID)
- 67
CRPPA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p21.2). Its official name is “CDP-L-ribitol pyrophosphorylase A”. The reference table lists 67 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs12539174Benignsingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related
- rs141625803Benignsingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs61734789Benignsingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs61744487Benignsingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs183141256Conflicting interpretationssingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs376909665Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2U|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Congenital Muscular Dystrophy, alpha-dystroglycan related
- rs397515398Conflicting interpretationsDeletionMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs773739293Conflicting interpretationssingle nucleotide variantCongenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2U|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
- rs886044356Conflicting interpretationssingle nucleotide variant
- rs368593151Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
- rs397515396Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs587777798PathogenicMicrosatelliteAutosomal recessive limb-girdle muscular dystrophy type 2U|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
- rs200334999Uncertain significancesingle nucleotide variantMuscular 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
- rs397515409Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
Other listed variants
- rs1012402
- rs1034960
- rs1295133
- rs1295164
- rs1527218
- rs1527219
- rs1921840
- rs2389594
- rs2526604
- rs4537216
- rs4565368
- rs6954901
- rs6973859
- rs10247201
- rs10264783
- rs10486791
- rs10950605
- rs11772802
- rs11972185
- rs12111732
- rs12155379
- rs17169263
- rs17169281
- rs17169291
- rs17169296
- rs17169351
- rs17169374
- rs17616119
- rs17617900
- rs34992551
- rs35681285
- rs57548226
- rs60943478
- rs62439473
- rs73056371
- rs73060599
- rs73065181
- rs73072875
- rs73306450
- rs73306454
- rs74439935
- rs75270270
- rs75481407
- rs76991440
- rs79430971
- rs80118450
- rs117041036
- rs117227421
- rs117264364
- rs117418493
- rs148785311
- rs181020071
- rs191462164
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.