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 1:169518453 (forward strand)|View in location tab

Co-located variants

COSMIC COSM207756 ; HGMD-PUBLIC CM030037 ; dbSNP rs760084344 (G/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17295

HGVS names

This variant has 8 HGVS names - Hide

1:g.169518453G>A
ENST00000367796.3:c.6319C>T
ENSP00000356770.3:p.Arg2107Cys
ENST00000367797.7:c.6304C>T
ENSP00000356771.3:p.Arg2102Cys
LRG_553:g.73079C>T
LRG_553t1:c.6304C>T
LRG_553p1:p.Arg2102Cys

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays