Variant information


Systematic Name
(NM_004992.3:)		 c.[806delG(;) *8C>T]
Protein name
(NP_004983)		 p.Gly269fs
Alternate systematic Name
(NM_001110792.1:)		 c.[842delG;*8C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296473delC;153295810G>A]
Mutation type frameshift insertion or deletion, 3'UTR variation
Domain TRD-NLS, 3'UTR
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[806delG(;) *8C>T] p.Gly269fs Female Rett syndrome-Classical 446 ::: View details