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 9:133352446 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981888

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5516

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

9:g.133352446G>A
ENST00000371974.7:c.751C>T
ENSP00000361042.3:p.Gln251Ter
ENST00000437995.1:n.661C>T
ENST00000495952.5:n.741C>T
ENST00000615505.4:c.424C>T
ENSP00000482067.1:p.Gln142Ter

About this variant

This variant overlaps 32 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays