Proband information


Proband id 6353
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
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
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 :::