Proband information


Proband id 445
Systematic Name
(NM_004992.3:)		 c.*8C>T
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*8C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295810G>A
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection direct
Extent Parts of exon 4
Source of DNA blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.*8C>T 3'UTR variation Male Relative of proband Not Rett synd. 445 :::
2 c.*8C>T 3'UTR variation Female Relative of proband Not Rett synd. 449 :::