Full data view for gene APC


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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

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     
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Vogt and Aretz (unpublished) - - Unknown ? - - 0 - DNA SEQ ? screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.63806-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - De novo ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_*2113{0} r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 0 - DNA SSCA, SEQ - screen APC gene (index patient) FAP1 - 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
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