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 (T)

Chromosome 3:8745688 (forward strand) | View in location tab


with COSMIC COSM2828095 (G/A) ; HGMD-PUBLIC CM030812 ; PhenCode CAV3:c.277G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 5 phenotypes and is mentioned in 3 citations.

Variant displays