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 13:51946445 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960128

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_010013

This variant has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts and is associated with 1 phenotype.

Variant displays