Proband information


Proband id 479
Systematic Name
(NM_004992.3:)		 c.27-8C>G
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.63-8C>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153298016G>C
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.27-8C>G intronic variation Female Mother is not carrier Rett syndrome-Classical 479 :::
2 c.27-8C>G intronic variation Female Rett syndrome-classical 6353 :::