Original source

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

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

Chromosome X:48527256 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD033706, CM990499

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

X:g.48527256G>A
ENST00000276096.10:n.398G>A
ENST00000466461.1:n.279G>A
ENST00000495186.5:c.440G>A
ENSP00000417052.1:p.Arg147His
ENST00000498425.1:n.561G>A
ENST00000446158.5:c.440G>A
ENSP00000390031.1:p.Arg147His

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays