Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 18:23539418 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012435

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15118

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

18:g.23539418C>T
ENST00000591075.1:n.481G>A
ENST00000269228.9:c.2848G>A
ENSP00000269228.4:p.Val950Met
ENST00000591051.1:c.1926G>A
ENSP00000467636.1:p.Val643Met

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays