Proband information


Proband id 4467
Systematic Name
(NM_004992.3:)		 c.518C>G
Protein name
(NP_004983)		 p.Pro173Arg
Alternate systematic Name
(NM_001110792.1:)		 c.554C>G
Alternate Protein name
(NP_001104262)		 p.(Pro185Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296761G>C
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.518C>G p.Pro173Arg Female brother and father tested normal; mother is a carrier for 518C-G; p.P173R Not Known 4466 :Das, S., Dempsey, M. U. Chicago::
2 c.518C>G p.Pro173Arg Female Not Rett synd. 4467 :Das, S., Dempsey, M. U. Chicago::
3 c.518C>G p.Pro173Arg Female Not Known 4468 :Das, S., Dempsey, M. U. Chicago::
4 c.518C>G p.Pro173Arg Female in daughter with classic RTT Not Rett synd. 6590 :::