Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome X:48528287 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002589

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6921, 2010_April_001_087_EBP_300205_0010

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays