Original source

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

with HGMD-PUBLIC CM104586

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_064126

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays