Original source

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

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

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

Co-located

with HGMD-PUBLIC CM994512

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays