Proband information


Proband id 6903
Systematic Name
(NM_004992.3:)		 c.752C>G
Protein name
(NP_004983)		 p.Pro251Arg
Alternate systematic Name
(NM_001110792.1:)		 c.788C>G
Alternate Protein name
(NP_001104262)		 p.(Pro263Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296527G>C
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier Y
Carrier result "mother not a carrier,father not tested"
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.752C>G p.Pro251Arg Female "mother not a carrier,father not tested" Not Known 6903 :::