Proband information



Proband id 7008
Systematic Name c.1410_1411delCA
Protein name p.Asn470Lysfs*16
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 Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-not certain
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1410_1411delCA p.Asn470Lysfs*16 frameshift insertion or deletion Mutation associated with disease 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 frameshift insertion or deletion Mutation associated with disease 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 frameshift insertion or deletion Mutation associated with disease 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 frameshift insertion or deletion Mutation associated with disease 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