Variant (rsID / SNP)
rs368593151
rs368593151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,341,079. Clinical significance in the table: Pathogenic.
Reference-table entries
CRPPAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:16341079
- Cytoband
- 7p21.2
- HGVS
- NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)
- Allele change
- Nonsense_R218X
Associated conditions / phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.