Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 16:20348652 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM023184, CM034987

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature and is associated with 5 phenotypes.

Variant displays