Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome X:111410134 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3747256, COSM3747257 ; HGMD-PUBLIC CM035964, CM990469

Most severe consequence
 
Stop gained
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.111410134G>A
ENST00000371993.6:c.265C>T
ENSP00000361061.2:p.Arg89Ter
ENST00000468911.1:c.265C>T
ENSP00000418811.1:p.Arg89Ter
ENST00000496551.1:n.505C>T
ENST00000356220.7:c.265C>T
ENSP00000348553.3:p.Arg89Ter
ENST00000338081.7:c.508C>T
ENSP00000337697.3:p.Arg170Ter
ENST00000358070.8:c.483C>T
ENSP00000350776.4:p.Arg162Ter
ENST00000488120.1:c.265C>T
ENSP00000419861.1:p.Arg89Ter

Variant allele C
X:g.111410134G>C
ENST00000371993.6:c.265C>G
ENSP00000361061.2:p.Arg89Gly
ENST00000468911.1:c.265C>G
ENSP00000418811.1:p.Arg89Gly
ENST00000496551.1:n.505C>G
ENST00000356220.7:c.265C>G
ENSP00000348553.3:p.Arg89Gly
ENST00000338081.7:c.508C>G
ENSP00000337697.3:p.Arg170Gly
ENST00000358070.8:c.483C>G
ENSP00000350776.4:p.Arg162Gly
ENST00000488120.1:c.265C>G
ENSP00000419861.1:p.Arg89Gly

About this variant

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

Variant displays