Original source

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

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

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

Co-located variants

HGMD-PUBLIC CM004187, CM012906

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 88 HGVS names - Show

About this variant

This variant overlaps 54 transcripts and is associated with 5 phenotypes.

Variant displays