Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome X:111410166 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1113201, COSM1598660 ; HGMD-PUBLIC CM990468, CM980522

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 28 HGVS names - Hide

Variant allele A
X:g.111410166C>A
ENST00000371993.6:c.233G>T
ENSP00000361061.2:p.Arg78Leu
ENST00000468911.1:c.233G>T
ENSP00000418811.1:p.Arg78Leu
ENST00000496551.1:n.473G>T
ENST00000356220.7:c.233G>T
ENSP00000348553.3:p.Arg78Leu
ENST00000338081.7:c.476G>T
ENSP00000337697.3:p.Arg159Leu
ENST00000358070.8:c.451G>T
ENSP00000350776.4:p.Arg151Leu
ENST00000488120.1:c.233G>T
ENSP00000419861.1:p.Arg78Leu

Variant allele T
X:g.111410166C>T
ENST00000371993.6:c.233G>A
ENSP00000361061.2:p.Arg78His
ENST00000468911.1:c.233G>A
ENSP00000418811.1:p.Arg78His
ENST00000496551.1:n.473G>A
ENST00000356220.7:c.233G>A
ENSP00000348553.3:p.Arg78His
ENST00000338081.7:c.476G>A
ENSP00000337697.3:p.Arg159His
ENST00000358070.8:c.451G>A
ENSP00000350776.4:p.Arg151His
ENST00000488120.1:c.233G>A
ENSP00000419861.1:p.Arg78His

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays