Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 6:6151813 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS920751

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1817

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays