Original source

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

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

Chromosome 18:31592974 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM098273, CM920684, CM870020

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, is associated with 6 phenotypes and is mentioned in 2 citations.

Variant displays