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:2934859 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980124

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000047.2:c.1743G>A, 6886

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays