Variant (rsID / SNP)

rs114342808

rs114342808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,390,534. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CRB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:197390534
Cytoband: 1q31.3
HGVS: NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
Allele change: Nonsense_R457X

Associated conditions / phenotypes

Leber congenital amaurosis 8|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis|Retinal dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.