Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 1:169560701 (forward strand)|View in location tab

Co-located variants

COSMIC COSM677256 ; HGMD-PUBLIC CM032567

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 17297

HGVS names

This variant has 8 HGVS names - Hide

1:g.169560701C>A
ENST00000367796.3:c.439G>T
ENSP00000356770.3:p.Glu147Ter
ENST00000367797.7:c.439G>T
ENSP00000356771.3:p.Glu147Ter
LRG_553:g.30831G>T
LRG_553t1:c.439G>T
LRG_553p1:p.Glu147Ter

About this variant

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

Variant displays