Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM980968

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2283

HGVS names

This variant has 3 HGVS names - 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