Proband information


Proband id 2533
Systematic Name
(NM_004992.3:)		 c.1023_*14472del14911
Protein name
(NP_004983)		 p.Ser341fs
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153281346_153296256del14911
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
Extent Exons 1-4
Source of DNA Not known
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1023_*14472del14911 p.Ser341fs Female Rett syndrome-Classical 2533 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379