Variant (rsID / SNP)
rs376909665
rs376909665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,298,572. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CRPPAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:16298572
- Cytoband
- 7p21.2
- HGVS
- NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
- Allele change
- Synonymous_D283D
Associated conditions / phenotypes
Autosomal 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.