Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (A)

Chromosome 1:197477806 (forward strand) | View in location tab


with COSMIC COSM3385589 (G/A) ; HGMD-PUBLIC CM043275

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_022983

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays