Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 1:173904011 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM880012

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

1:g.173904011G>A
ENST00000367698.3:c.1273C>T
ENSP00000356671.3:p.Arg425Cys
ENST00000617423.4:c.658C>T
ENSP00000478688.1:p.Arg220Cys
LRG_577:g.18368C>T
LRG_577t1:c.1273C>T
LRG_577p1:p.Arg425Cys

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays