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 6:161785820 (forward strand) | View in location tab


with COSMIC COSM1722444 (G/A), COSM1722445 (G/A) ; HGMD-PUBLIC CM991007

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2505 sample genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays