Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome 17:35577180 (forward strand) | View in location tab


with COSMIC COSM3387807 (G/A) ; HGMD-PUBLIC CM981517

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays