Proband information


Proband id 5327
Systematic Name
(NM_004992.3:)		 c.-99+2_30delTG
Protein name
(NP_004983)		 intronic variant
Alternate systematic Name
(NM_001110792.1:)		 c.62+2_66delTG
Alternate Protein name
(NP_001104262)		 intronic variant
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153298005_153363059delCA
Mutation type Frameshift deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection PCR/diagnostic restriction
Extent
Source of DNA Blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial NK
Phenotype-class Rett syndrome-male variant
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-99+2_30delTG intronic variant Male Rett syndrome-male variant 5327 :::