Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4296

This variant has 4 HGVS names - click the plus to 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