Original source

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

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

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

Co-located

with HGMD-PUBLIC CM053350, CM971074

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

18:g.23536811G>A
ENST00000591075.1:n.740C>T
ENST00000591955.1:n.450C>T
ENST00000269228.8:c.3107C>T
ENSP00000269228.4:p.Thr1036Met
ENST00000591051.1:c.2185C>T
ENSP00000467636.1:p.Thr729Met

About this variant

This variant overlaps 12 transcripts and is associated with 3 phenotypes.

Variation displays