Original source

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

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

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

Co-located variants

HGMD-PUBLIC CM950100, CM980122

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

About this variant

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

Variant displays