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