Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with HGMD-PUBLIC CM880012

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

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

About this variant

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

Variant displays