Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 8:132971804 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM994512

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 11 transcripts and is associated with 3 phenotypes.

Variant displays