This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T | Ancestral: G | Ambiguity code: N
Location

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

Co-located

with HGMD-PUBLIC CM012453, CM981712

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

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

Variant allele C
X:g.46853726G>C
ENST00000218340.3:c.353G>C
ENSP00000218340.3:p.Arg118Pro

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 3 transcripts and is associated with 5 phenotypes.

Variant displays