Variant (rsID / SNP)
rs397515409
rs397515409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,348,224. Clinical significance in the table: Uncertain significance.
Reference-table entries
CRPPAUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:16348224
- Cytoband
- 7p21.2
- HGVS
- NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)
- Allele change
- Missense_T188I
Associated conditions / phenotypes
Muscular 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.