Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 18:31592983 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM840006, CM910374, CM962553

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4837, 4875

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 4 phenotypes.

Variant displays