Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 17:80214672 (forward strand) | View in location tab


with COSMIC COSM1189595 (C/T) ; HGMD-PUBLIC CM971361

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_200_SGSH_605270_0005, 13067

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays