Full data view for gene APC


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

55 entries on 1 page. Showing entries 1 - 55.
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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     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? screen APC gene (index patient) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? screen APC gene (index patient) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? screen APC gene (index patient) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - De novo ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - g.65185_65788del - APC_000534 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - Sweden, Gothenburg, Department of Molecular and Clinical Genetics, University of Gothenburg - - - Sweden - - - no (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 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
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - 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
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