Variant information


Systematic Name
(NM_004992.3:)		 c.1330_1342del13
Protein name
(NP_004983)		 p.Ala444fs
Alternate systematic Name
(NM_001110792.1:)		 c.1366_1378del13
Alternate Protein name
(NP_001104262)		 p.(Ala456Lysfs*34)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295937_153295949del13
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.1330_1342del13 p.Ala444fs Female Not Known 1711 :Friez, Michael:: View details