Proband information


Proband id 6620
Systematic Name
(NM_004992.3:)		 c.377A>T
Protein name
(NP_004983)		 p.Asn126Ile
Alternate systematic Name
(NM_001110792.1:)		 c.413A>T
Alternate Protein name
(NP_001104262)		 p.(Asn138Ile)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297658T>A
Mutation type missense
Domain MBD
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 Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-infant-onset encephalopathy
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.377A>T p.Asn126Ile Male Not Rett synd. 6620 :::