Variant information


Systematic Name
(NM_004992.3:)
c.-99+2_30delTG
Protein name
(NP_004983)
intronic variant
Alternate systematic Name
(NM_001110792.1:)
c.62+2_66delTG
Alternate Protein name
(NP_001104262)
intronic variant
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153298005_153363059delCA
Mutation type Frameshift deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-99+2_30delTG intronic variant Male Rett syndrome-male variant 5327 ::: View details