Full data view for gene C9orf72

Information The variants shown are described using the transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#1 PubMed: Ozoguz 2015 3-generation family, affected father/daughter M - Turkey - - - - - 2 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#2 PubMed: Ozoguz 2015 4-generation family, 13 affected (6F, 7M) F - Turkey - - - - - 13 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#3 PubMed: Ozoguz 2015 6-generation family, 4 affected (2F, 2M) M - Turkey - - - - - 4 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#4 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#5 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#6 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#7 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#8 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#9 PubMed: Ozoguz 2015 - F - Turkey - - - - - 2 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#10 PubMed: Ozoguz 2015 - M - Turkey - - - - - 3 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#11 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#12 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#13 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#14 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#15 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S1 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S2 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S3 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S4 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S5 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S6 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S7 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S8 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S9 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S10 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S11 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(250_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(250_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA FISH, PCR, SEQ - - FTDALS - PubMed: Renton 2011, Journal: Renton 2011 4-generation family, 9 affecteds - no United Kingdom (Great Britain) Welsh - - - - 9 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(250_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(250_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA FISH, PCRdig - - FTDALS - PubMed: Renton 2011, Journal: Renton 2011 3-generation family, 8 affecteds - no United States - - - - - 8 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - FTD - PubMed: Renton 2011, Journal: Renton 2011 6-generation family, 10 affecteds - no Netherlands - - - - - 10 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - ALS - PubMed: Renton 2011, Journal: Renton 2011 4-generation family, 8 affecteds - no Italy - - - - - 8 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - ALS - PubMed: Renton 2011, Journal: Renton 2011 3-generation family, 5 affecteds - no United States - - - - - 5 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Paternal (confirmed) - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Germline yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 3-generation family, 4 affecteds (F, 3M) M no Italy Sardinia 46y - - - 4 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 father of patient M no Italy Sardinia 70y - - - 1 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown - - - - - DNA PCR, SEQ - - ALS - PubMed: Chio 2012, Journal: Chio 2012 2-generation family, 1 affected (other family members not tested) M no Italy Sardinia >39y - - - 1 Johan den Dunnen
-/. 1i c.-45+168_-45+185CGGGGC[(3_20)] - r.(?) p.(=) Parent #1 - benign g.27573522_27573539GCCCCG[(3_20)] - - - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011 - - Germline no - - - - DNA PCR - - Healthy/Control - PubMed: Renton 2011, Journal: Renton 2011 controls from Finland (478), USA (262), German (64), Italian (83) - - - - - - - - 887 Johan den Dunnen
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