Original source

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

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

Chromosome 17:39724744 (forward strand) | View in location tab


with COSMIC COSM20895 (G/TTAT), COSM12554 (G/CTTT), COSM19875 (G/TTGT), COSM685 (G/A), COSM303938 (G/T) ; dbSNP rs397516980 (G/TTAT)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 23 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays