Variant information


Systematic Name
(NM_004992.3:)
c.1170_1207del38
Protein name
(NP_004983)
p.Pro391*
Alternate systematic Name
(NM_001110792.1:)
c.1206_1243del38
Alternate Protein name
(NP_001104262)
p.(Pro403*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296072_153296109del38
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.1170_1207del38 p.Pro391* Female Not Known 4419 :Das, S., Dempsey, M. U. Chicago:: View details