Variant information


Systematic Name
(NM_004992.3:)		 c.[377+22C>G; 378-74C>T]
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.[413+22C>G;414-74C>T]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297636G>C;153296975G>A]
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[377+22C>G; 378-74C>T] intronic variation Female Not Known 2029 ::: View details