Original source

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

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

Chromosome 19:49061382 (forward strand) | View in location tab


with COSMIC COSM3404440 (G/A) ; HGMD-PUBLIC CM096282

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4296

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays