Variant information


Systematic Name
(NM_004992.3:)		 c.*8C>T
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*8C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295810G>A
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.*8C>T 3'UTR variation Male Not Rett synd. 445 ::: View details
2 c.*8C>T 3'UTR variation Female Not Rett synd. 449 ::: View details