rs1567004102
- Pathogenic
Your Genotype
Sign InDescription
The Y898X nonsense variant has been reported previously as homozygous in association with congenital stationary night blindness (Taylor et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016).We interpret this variant as pathogenic.
Reference Allele
G
Alternative Allele
C
Chromosome
15
Location
31032881
Variant Type
SNP
Genes
LOC105370752
Phenotypes
ClinVar
Name
NM_001252024.2(TRPM1):c.2760C>G (p.Tyr920Ter)
Allele
C
Clinical Significance
Pathogenic