Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome X:111410188 (forward strand)|View in location tab

Co-located variants

COSMIC COSM319830 ; HGMD-PUBLIC CM004409

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_069_DCX_300121_0014, 6817

HGVS names

This variant has 14 HGVS names - Hide

X:g.111410188C>A
ENST00000371993.6:c.211G>T
ENSP00000361061.2:p.Ala71Ser
ENST00000468911.1:c.211G>T
ENSP00000418811.1:p.Ala71Ser
ENST00000496551.1:n.451G>T
ENST00000356220.7:c.211G>T
ENSP00000348553.3:p.Ala71Ser
ENST00000338081.7:c.454G>T
ENSP00000337697.3:p.Ala152Ser
ENST00000488120.1:c.211G>T
ENSP00000419861.1:p.Ala71Ser
ENST00000358070.8:c.429G>T
ENSP00000350776.4:p.Ala144Ser

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays