Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 16:50711058 (forward strand) | View in location tab


with COSMIC COSM3888617 (G/A) ; HGMD-PUBLIC CM051409

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays