Variant information


Systematic Name
(NM_004992.3:)		 c.27-8C>G
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.63-8C>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153298016G>C
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.27-8C>G intronic variation Female Rett syndrome-Classical 479 ::: View details
2 c.27-8C>G intronic variation Female Rett syndrome-classical 6353 ::: View details