Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome X:46713161 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981712, CM012453

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

Variant allele A
X:g.46713161G>A
ENST00000218340.3:c.353G>A
ENSP00000218340.3:p.Arg118His

Variant allele T
X:g.46713161G>T
ENST00000218340.3:c.353G>T
ENSP00000218340.3:p.Arg118Leu

Genotyping chips

This variation has assays on: Illumina_1M-duo, Illumina_HumanOmni5

Variation displays