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 1:173914795 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM890015

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

1:g.173914795G>A
ENST00000494024.1:n.392C>T
ENST00000367698.3:c.166C>T
ENSP00000356671.3:p.Arg56Cys
ENST00000617423.4:c.166C>T
ENSP00000478688.1:p.Arg56Cys
LRG_577:g.7584C>T
LRG_577t1:c.166C>T
LRG_577p1:p.Arg56Cys

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays