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 1:169542689 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012100

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 17291

HGVS names

This variant has 8 HGVS names - Hide

1:g.169542689G>A
ENST00000367796.3:c.2416C>T
ENSP00000356770.3:p.Gln806Ter
ENST00000367797.7:c.2401C>T
ENSP00000356771.3:p.Gln801Ter
LRG_553:g.48843C>T
LRG_553t1:c.2401C>T
LRG_553p1:p.Gln801Ter

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays