Variant information


Systematic Name
(NM_004992.3:)		 c.[897C>T(;)1155_1200del46]
Protein name
(NP_004983)		 p.[Thr299Thr(;)Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[933C>T;1191_1236del46]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296382G>A;153296079_153296124del46]
Mutation type Silent, frameshift insertion or deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] Female Rett syndrome-Atypical 435 ::: View details