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 1:173914582 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970122

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 380

HGVS names

This variant has 10 HGVS names - Hide

1:g.173914582A>G
ENST00000494024.1:n.605T>C
ENST00000487183.1:n.84T>C
ENST00000367698.3:c.379T>C
ENSP00000356671.3:p.Cys127Arg
ENST00000617423.4:c.379T>C
ENSP00000478688.1:p.Cys127Arg
LRG_577:g.7797T>C
LRG_577t1:c.379T>C
LRG_577p1:p.Cys127Arg

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays