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 - Hide

X:g.48523824T>C
ENST00000446158.5:c.53T>C
ENSP00000390031.1:p.Leu18Pro
ENST00000495186.5:c.53T>C
ENSP00000417052.1:p.Leu18Pro
ENST00000276096.10:n.110-99T>C
ENST00000498425.1:n.174T>C
ENST00000414061.1:c.53T>C
ENSP00000405832.1:p.Leu18Pro

About this variant

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

Variant displays