Full data view for gene APC


Information The variants shown are described using the NM_000038.5 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - whole gene deletion - APC_000200 Deletion entire APC gene PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA leukocytes screen APC gene (index patient) FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Raedle et al. 2001 - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Aretz et al. 2005 - - De novo ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Aretz et al. 2005 - - De novo ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion Aretz and Friedl (unpublished) - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Austria - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - De novo ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - - - Belgium - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Unknown ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - Carli Tops (unpublished) - - De novo ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - Carli Tops (unpublished) - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - - - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - Germline ? - - 0 - DNA SEQ - screen APC gene (index patient) FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - De novo ? - - 0 - DNA SEQ - screen APC gene (index patient) FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - De novo ? - - 0 - DNA SEQ - screen APC gene (index patient) FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Aceto et al. 2005 - - Germline ? - - 0 - DNA HD, PTT, SSCA, DHPLC - screen APC gene (index patient) FAP-1 - Italy, Chieti, Department of Oncology and Neurosciences, University G. D'Annunzio - - - Italy - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - (?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - (?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Unknown ? - - 0 - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large Unknown g.(?_112073556)_(112179824_?)del - [?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/. P_1_18_ _15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large 0.000 deletion, large Maternal (inferred) g.(?_112073556)_(112179824_?)del - - - APC_000200 - - - - Germline/De novo (untested) - - - 0 - DNA MCA, MLPA, PCR, SEQ Blood screen APC gene (index patient) FAP-1 - - Mother - colorectal cancer (63 years), aunt (m) - colorectal cancer (66 years) M - Russia - - 0 - - 1 Grigorij Yanus
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