Variant information


Systematic Name
(NM_004992.3:)		 c.515C>T
Protein name
(NP_004983)		 p.Pro172Leu
Alternate systematic Name
(NM_001110792.1:)		 c.551C>T
Alternate Protein name
(NP_001104262)		 p.(Pro184Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296764G>A
Mutation type missense
Domain inter-domain region
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.515C>T p.Pro172Leu Female Not Rett synd. 4179 ::: View details
2 c.515C>T p.Pro172Leu Male Not Rett synd. 4180 ::: View details