Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: < 0.01 (A)
Location

Chromosome 16:56894555 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001791

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_039531

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays