Proband information
Proband id | 7005 |
---|---|
Systematic Name (NM_004992.3:) |
c.1410_1411delCA |
Protein name (NP_004983) |
p.Asn470Lysfs*16 |
Alternate systematic Name (NM_001110792.1:) |
c.1446_1447delCA |
Alternate Protein name (NP_001104262) |
p.(Asn482Lysfs*16) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295868_153295869delTG |
Mutation type | frameshift insertion or deletion |
Domain | |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | familial |
Phenotype-class | Rett syndrome-atypical |
Reference | Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers:Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky:Pediatric Neurology: 28089766 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1410_1411delCA | p.Asn470Lysfs*16 | Male | Rett syndrome-atypical | 7005 | Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers:Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky:Pediatric Neurology: 28089766 | |
2 | c.1410_1411delCA | p.Asn470Lysfs*16 | Male | Rett syndrome-atypical | 7006 | Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers:Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky:Pediatric Neurology: 28089766 | |
3 | c.1410_1411delCA | p.Asn470Lysfs*16 | Female | Not Rett synd. | 7007 | Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers:Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky:Pediatric Neurology: 28089766 | |
4 | c.1410_1411delCA | p.Asn470Lysfs*16 | Female | Not Rett synd. | 7008 | Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers:Gabriel M. Ronen, Lauren I. Brady , Mark A. Tarnopolsky:Pediatric Neurology: 28089766 |