Variant (rsID / SNP)
rs62635656
rs62635656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,404,115. Clinical significance in the table: Pathogenic.
Reference-table entries
CRB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197404115
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
- Allele change
- Missense_M1017T
Associated conditions / phenotypes
Retinitis pigmentosa 12|CRB1-Related Disorders|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|Leber congenital amaurosis 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.