Original source

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

with HGMD-PUBLIC CM001791

Most severe consequence
Evidence status

Synonyms

Uniprot VAR_039531

This variation has 9 HGVS names - click the plus to show

About this variant

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

Variation displays