rs1485132228
- Pathogenic/Likely pathogenic
Your Genotype
Sign InDescription
The homozygous p.Arg916Ter variant was identified by our study in two siblings with congenital stationary night blindness. This variant has been identified in <0.01% (1/111676) of European (Non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Loss of function of the TRPM1 gene is an established disease mechanism in congenital stationary night blindness typ 1C, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
Reference Allele
G
Alternative Allele
A
Chromosome
15
Location
31035551
Variant Type
SNP
Genes
LOC105370752
ClinVar
Name
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
Allele
A
Clinical Significance
Pathogenic/Likely pathogenic