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 18:23536811 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM971074, CM053350

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.23536811G>A
ENST00000591075.1:n.740C>T
ENST00000269228.9:c.3107C>T
ENSP00000269228.4:p.Thr1036Met
ENST00000591955.1:n.450C>T
ENST00000591051.1:c.2185C>T
ENSP00000467636.1:p.Thr729Met

About this variant

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

Variant displays