Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome X:46853726 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM012453, CM981712

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

Variant allele A
X:g.46853726G>A
ENST00000218340.3:c.353G>A
ENSP00000218340.3:p.Arg118His

Variant allele T
X:g.46853726G>T
ENST00000218340.3:c.353G>T
ENSP00000218340.3:p.Arg118Leu

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts and is associated with 5 phenotypes.

Variant displays