Variant information


Systematic Name
(NM_004992.3:)		 c.1081C>G
Protein name
(NP_004983)		 p.Pro361Ala
Alternate systematic Name
(NM_001110792.1:)		 c.1117C>G
Alternate Protein name
(NP_001104262)		 p.(Pro373Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296198G>C
Mutation type Missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1081C>G p.Pro361Ala Female Not Known 2154 :Cardiff, UK:: View details
2 c.1081C>G p.Pro361Ala Female Not Rett synd. 2155 :Cardiff, UK:: View details
3 c.1081C>G p.Pro361Ala Male Not Known 2156 :Cardiff, UK:: View details
4 c.1081C>G p.Pro361Ala Female Not Rett synd. 2157 :Cardiff, UK:: View details