Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: 0.01 (T)

Chromosome 17:43115746 (forward strand) | View in location tab


with COSMIC COSM133664 (C/A) ; HGMD-PUBLIC CM041682

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 80 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 44 transcripts, has 3015 sample genotypes and is associated with 5 phenotypes.

Variant displays