efamilyofpatient13940
Family Label: Family of patient 13940
Family#previoustesting: Restriction enzyme digest to detect presence of proband mutation in family members.
Family#method1: SSCP analysis of affected exon (12)
Affected: 6
Unaffected: 6
Segregations: 5
Proband label: 13940
Variant: NC_000022.11:g.29673267A>T
CAID: CA288260
FamilyPMIDs: Short MP, Bove C, MacCollin M, Mohney T, Rames hV, Terenzio A ,Gusella J (1994). Gender differences in neurofibromatosis, type2. Neurology 44 Suppl 2 : A159.
gnomAD: not found