Variant information


Systematic Name
(NM_004992.3:)		 c.518C>G
Protein name
(NP_004983)		 p.Pro173Arg
Alternate systematic Name
(NM_001110792.1:)		 c.554C>G
Alternate Protein name
(NP_001104262)		 p.(Pro185Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296761G>C
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.518C>G p.Pro173Arg Female Not Known 4466 :Das, S., Dempsey, M. U. Chicago:: View details
2 c.518C>G p.Pro173Arg Female Not Rett synd. 4467 :Das, S., Dempsey, M. U. Chicago:: View details
3 c.518C>G p.Pro173Arg Female Not Known 4468 :Das, S., Dempsey, M. U. Chicago:: View details
4 c.518C>G p.Pro173Arg Female Not Rett synd. 6590 ::: View details