Original source

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

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

Chromosome 14:60648862 (forward strand) | View in location tab


with COSMIC COSM1300718 (G/A), COSM164343 (G/T), COSM698206 (G/C) ; HGMD-PUBLIC CM041438

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

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

Variant displays