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 18:23556436 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012422

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15117

This variant has 6 HGVS names - click the plus to show

18:g.23556436A>G
ENST00000269228.9:c.1133T>C
ENSP00000269228.4:p.Val378Ala
ENST00000540608.5:n.1047T>C
ENST00000591051.1:c.415T>C
ENSP00000467636.1:p.Val139Ala

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays