Proband information


Proband id 2532
Systematic Name
(NM_004992.3:)		 c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)
Protein name
(NP_004983)		 p.Arg9fs
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
Extent Exons 1-4
Source of DNA Not known
Carrier Y
Carrier result Neither parent has variation
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.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs Female Neither parent has variation Rett syndrome-Classical 2532 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379