rs201442201
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
The c.3227+5G>A variant in the TRPM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 24, and may cause abnormal gene splicing. The c.3227+5G>A variant is observed in 82/24004 (0.34%) alleles from individuals of African background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret c.3227+5G>A as a variant of uncertain significance.
Reference Allele
C
Alternative Allele
T
Chromosome
15
Location
31028327
Variant Type
SNP
Genes
LOC105370752
Phenotypes
ClinVar
Name
NM_001252024.2(TRPM1):c.3293+5G>A
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity