Original source

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

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

Chromosome 18:23536814 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012440

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

18:g.23536814G>A
ENST00000591075.1:n.737C>T
ENST00000591955.1:n.447C>T
ENST00000269228.9:c.3104C>T
ENSP00000269228.4:p.Ala1035Val
ENST00000591051.1:c.2182C>T
ENSP00000467636.1:p.Ala728Val

About this variant

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

Variant displays