Proband information


Proband id 4179
Systematic Name
(NM_004992.3:)
c.515C>T
Protein name
(NP_004983)
p.Pro172Leu
Alternate systematic Name
(NM_001110792.1:)
c.551C>T
Alternate Protein name
(NP_001104262)
p.(Pro184Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296764G>A
Mutation type missense
Domain inter-domain region
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result in unaffected father
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-sporadic mental retardation
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.515C>T p.Pro172Leu Female in unaffected father Not Rett synd. 4179 :::
2 c.515C>T p.Pro172Leu Male Not Rett synd. 4180 :::