Original source

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

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

Chromosome X:48523824 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030033

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_090_EBP_300205_0013, 6924

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 17 transcripts and is associated with 2 phenotypes.

Variant displays