Original source

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

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

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

Co-located

with HGMD-PUBLIC CM030261

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15125

This variation has 4 HGVS names - click the plus to show

18:g.23568949A>G
ENST00000269228.8:c.337T>C
ENSP00000269228.4:p.Cys113Arg
ENST00000540608.4:n.251T>C

About this variant

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

Variation displays