Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

Mutations in C9orf72

Mutation

Exon /
Domain

Citations

1

C9orf72 G4C2 hexanucleotide repeat expansion
   (g.-6426GGGGCC(?))


DeJesus-Hernandez M, 2011
Renton AE, 2011
Gijselinck I, 2012

2

C9orf72 g.26746_26773del
   (g.-6403_-6376del)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

3

C9orf72 g.26746_26761del
   (g.-6403_-6388del)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

4

C9orf72 g.26747_26756delGTGGTCGGGG
   (g.-6403_-6394delGTGGTCGGGG)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

5

C9orf72 g.26747_26751delGTGGT
   (g.-6403_-6399delGTGGT)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

6

C9orf72 g.26747_26768del
   (g.-6403_-6382del)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

7

C9orf72 g.26742_26764del
   (g.-6402_-6380del)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

8

C9orf72 g.26752_26762delCGGGGCGGGCC
   (g.-6393_-6383delCGGGCCCGGGG)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

9

C9orf72 g.26752_26774del
   (g.-6389_-6367del)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

10

C9orf72 g.26753_26764delGGGGCGGGCCCG
   (g.-6382_-6371delGCGGGCCCGGGG)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

11

C9orf72 g.26775_26776insG
   (g.-6375_-6374insG)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

12

C9orf72 g.26775_26776insGGGGCGGGCCCG
   (g.-6375_-6374insGGGGCGGGCCCG)

   Not pathogenic


van der Zee J & Gijselinck I, 2012

13

C9orf72 Thr66Ser
   (g.196A>T)

   Pathogenic nature unclear

EX2

van der Zee J & Gijselinck I, 2012


Selection: Gene In (C9orf72)



Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.



Top |  Back |  AD&FTDMDB Home