Proband information


Proband id 4902
Systematic Name
(NM_004992.3:)		 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]
Protein name
(NP_004983)		 p.[Ser360del(;) Pro381Leu(;) Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1113_1115delCTC;1178C>T;1193_1236del44]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296200_153296202delGAG;153296137G>A;153296079_153296122del44]
Mutation type frameshift insertion or deletion, missense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent four exons
Source of DNA blood
Carrier N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel double deletions in the MECP2 gene in Tunisian Rett patient:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh, F.:Gene: 22561697

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] Female Rett syndrome-classical 4902 Novel double deletions in the MECP2 gene in Tunisian Rett patient:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh, F.:Gene: 22561697