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:50085987 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960309

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6622, NM_000084.2:c.731C>T

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays