Original source

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

Alleles
C/A/G | Ancestral: C | Ambiguity code: V
Location

Chromosome X:2953163 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980122, CM950100

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 20 HGVS names - click the plus to show

Variant allele A
X:g.2953163C>A
ENST00000545496.5:c.485G>T
ENSP00000441417.1:p.Gly162Val
ENST00000540563.5:c.275G>T
ENSP00000438198.1:p.Gly92Val
ENST00000381134.7:c.410G>T
ENSP00000370526.3:p.Gly137Val
ENST00000483425.1:n.66G>T
ENST00000438544.5:c.410G>T
ENSP00000406528.1:p.Gly137Val

Variant allele G
X:g.2953163C>G
ENST00000545496.5:c.485G>C
ENSP00000441417.1:p.Gly162Ala
ENST00000540563.5:c.275G>C
ENSP00000438198.1:p.Gly92Ala
ENST00000381134.7:c.410G>C
ENSP00000370526.3:p.Gly137Ala
ENST00000483425.1:n.66G>C
ENST00000438544.5:c.410G>C
ENSP00000406528.1:p.Gly137Ala

About this variant

This variant overlaps 10 transcripts, is associated with 4 phenotypes and is mentioned in 5 citations.

Variant displays