Proband information


Proband id 1751
Systematic Name
(NM_004992.3:)		 c.1157_1192del36
Protein name
(NP_004983)		 p.Leu386_Asp398delinsHis
Alternate systematic Name
(NM_001110792.1:)		 c.1193_1228del36
Alternate Protein name
(NP_001104262)		 p.(Leu398_Asp410delinsHis)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296087_153296122del36
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1157_1192del36 p.Leu386_Asp398delinsHis Female Not Known 1751 :Friez, Michael::