Original source

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

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

Chromosome X:43731784 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930488

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 8379

This variant has 5 HGVS names - click the plus to show

About this variant

This variant overlaps 3 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays