Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (C)

Chromosome 17:4901944 (forward strand) | View in location tab


with COSMIC COSM178997 (G/A) ; HGMD-PUBLIC CM962727

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 26 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays