Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 1:169552693 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032568

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17296

HGVS names

This variant has 8 HGVS names - Hide

1:g.169552693A>G
ENST00000367796.3:c.1160T>C
ENSP00000356770.3:p.Ile387Thr
ENST00000367797.7:c.1160T>C
ENSP00000356771.3:p.Ile387Thr
LRG_553:g.38839T>C
LRG_553t1:c.1160T>C
LRG_553p1:p.Ile387Thr

About this variant

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

Variant displays