Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.01 (A)

Chromosome 19:41341955 (forward strand) | View in location tab


with COSMIC COSM3756816 (G/A) ; HGMD-PUBLIC CM044946

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3547 sample genotypes, is associated with 1 phenotype and is mentioned in 24 citations.

Variant displays