Variant information


Systematic Name
(NM_004992.3:)		 c.308G>A
Protein name
(NP_004983)		 p.Gly103Asp
Alternate systematic Name
(NM_001110792.1:)		 c.344G>A
Alternate Protein name
(NP_001104262)		 p.(Gly115Asp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297727C>T
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.308G>A p.Gly103Asp Female Rett syndrome-atypical 4395 :Khajuria, R.:: View details