Variant information


Systematic Name
(NM_004992.3:)		 c.1271_1416del146
Protein name
(NP_004983)		 p.Leu424fs
Alternate systematic Name
(NM_001110792.1:)		 c.1307_1452del146
Alternate Protein name
(NP_001104262)		 p.(Leu436Argfs*14)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295863_153296008del146
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1271_1416del146 p.Leu424fs Female Not Known 1662 :Friez, Michael:: View details