Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: 0.01 (G)

Chromosome 19:1223126 (forward strand) | View in location tab


with COSMIC COSM21360 (C/G) ; HGMD-PUBLIC CM041082

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays