Original source

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

A/G | Ancestral: A | Ambiguity code: R

Chromosome 12:110919145 (forward strand) | View in location tab


with COSMIC COSM4038693 (A/C) ; HGMD-PUBLIC CM981331 ; PhenCode FHC0202 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays