Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg282Ter (p.R282*)
(
ENST00000407218.5,
ENST00000453960.7,
ENST00000303391.11,
ENST00000415944.4,
ENST00000628176.2 )
MECP2 p.Arg282Gly (p.R282G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg282Ter (p.R282*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg282Gly (p.R282G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Rett syndrome
- Source Database
- DisGeNET
- Description
- Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X).
- Pubmed
- 11738872
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2001
Drugs