Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 5:132385355 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM104586

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_064126

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays