Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 1:115286135 (forward strand) | View in location tab


with COSMIC COSM4020975 (G/A) ; HGMD-PUBLIC CM040787 ; PhenCode IPNMDB_396 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 681 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays