rs376895980
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Reference Allele
G
Alternative Allele
A
Chromosome
10
Location
78009622
Variant Type
SNP
Genes
ClinVar
Name
NM_007055.4(POLR3A):c.1824C>T (p.Ser608=)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity