Original source

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

Alleles
A/G/T | Ancestral: A | Ambiguity code: D
Location

Chromosome 17:43124044 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012906, CM004187

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB U14680.1:c.53T>A, U14680.1:c.53T>C

This variant has 84 HGVS names - click the plus to show

About this variant

This variant overlaps 52 transcripts and is associated with 5 phenotypes.

Variant displays