Original source

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

Alleles
G/C/T|Ancestral: G|Ambiguity code: B
Location

Chromosome X:111401087 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980531

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Hide

Variant allele T
X:g.111401087G>T
ENST00000371993.6:c.608C>A
ENSP00000361061.2:p.Thr203Lys
ENST00000496551.1:n.848C>A
ENST00000338081.7:c.851C>A
ENSP00000337697.3:p.Thr284Lys
ENST00000356220.7:c.608C>A
ENSP00000348553.3:p.Thr203Lys
ENST00000488120.1:c.608C>A
ENSP00000419861.1:p.Thr203Lys
ENST00000358070.8:c.826C>A
ENSP00000350776.4:p.Thr276Lys

Variant allele C
X:g.111401087G>C
ENST00000371993.6:c.608C>G
ENSP00000361061.2:p.Thr203Arg
ENST00000496551.1:n.848C>G
ENST00000338081.7:c.851C>G
ENSP00000337697.3:p.Thr284Arg
ENST00000356220.7:c.608C>G
ENSP00000348553.3:p.Thr203Arg
ENST00000488120.1:c.608C>G
ENSP00000419861.1:p.Thr203Arg
ENST00000358070.8:c.826C>G
ENSP00000350776.4:p.Thr276Arg

About this variant

This variant overlaps 12 transcripts and is associated with 4 phenotypes.

Variant displays