Original source

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

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 3:129061951 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM117142, CM970691

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4761

HGVS names

This variant has 12 HGVS names - Show

About this variant

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

Variant displays