Original source

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

T/C | Ancestral: T | Ambiguity code: Y

Chromosome 8:19954240 (forward strand) | View in location tab


with COSMIC COSM1097856 (T/A) ; HGMD-PUBLIC CM910262

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 16461

This variant has 3 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays