Proband information


Proband id 1565
Systematic Name
(NM_004992.3:)		 c.542C>T
Protein name
(NP_004983)		 p.Ala181Val
Alternate systematic Name
(NM_001110792.1:)		 c.578C>T
Alternate Protein name
(NP_001104262)		 p.(Ala193Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296737G>A
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Fragment containing mutation found in relative
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.542C>T p.Ala181Val Male Unaffected mother 71-I is carrier Not Rett synd. 1564 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
2 c.542C>T p.Ala181Val Female Relative of proband Not Rett synd. 1565 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770