Proband information
Proband id | 3350 |
---|---|
Systematic Name (NM_004992.3:) |
c.27-?_377+?del (exon 3 deletion) |
Protein name (NP_004983) |
p.Arg9_Asn126delinsSer |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | gene dosage analysis |
Extent | exons 3 and 4 |
Source of DNA | not known |
Carrier | |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | Rett syndrome-not certain | 3350 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | |
2 | c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | not in parents but in monozygotic twin sister | Rett syndrome-not certain | 4777 | De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116 |
3 | c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | not in parents but in monozygotic twin sister | Rett syndrome-not certain | 4778 | De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116 |