Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 18:23568949 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030261

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15125

HGVS names

This variant has 4 HGVS names - Hide

18:g.23568949A>G
ENST00000269228.9:c.337T>C
ENSP00000269228.4:p.Cys113Arg
ENST00000540608.5:n.251T>C

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays