Original source

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

G/T | Ancestral: G | Ambiguity code: K

Chromosome 12:21546457 (forward strand) | View in location tab


with HGMD-PUBLIC CM980968

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2283

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

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays