Variant information
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 |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
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 | View details |
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 | View details |
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 | View details |
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 | View details |