Original source

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

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

Chromosome 14:23429279 (forward strand) | View in location tab


with COSMIC COSM954779 (G/A) ; HGMD-PUBLIC CM930504 ; PhenCode FHC0118 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 2 transcripts, has 263 sample genotypes and is associated with 5 phenotypes.

Variant displays