Original source

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

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

Chromosome 6:162443371 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3622685, COSM3622686 ; HGMD-PUBLIC CM025200

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_019735

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays