Proband information


Proband id 2053
Systematic Name
(NM_004992.3:)		 c.[378-74C>T;602C>T];[378-74C>T]
Protein name
(NP_004983)		 p.[Ala201Val];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Intronic variation, missense
Domain Intronic, inter-domain region
Pathogenicity Polymorphism not causing disease
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 Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] Female Relative of proband Not Rett synd. 2053 :::