Full data view for gene APC


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

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? screen APC gene (index patient) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT - APC_000330 - PubMed: Spirio et al. 1999 - - Germline ? - - 0 - DNA SEQ ? test known APC variant (relative) FAP-1 - USA, Salt Lake City, University of Utah, Department of Oncological Sciences - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
?/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Unknown g.112111325G>A g.112775628G>A nt-1 of exon 4, AG --> AA - APC_000330 - PubMed: Su et al. 2000 - - Unknown ? - - 0 - DNA PTT, RT-PCR, SEQ ? screen APC gene (index patient) FAP-1 - USA, Houston, Department of Cancer Biology, University of Texas - - - United States - - - no (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected - substitution Unknown g.112111325G>A g.112775628G>A - - APC_000330 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected - substitution Unknown g.112111325G>A g.112775628G>A - - APC_000330 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected - substitution Unknown g.112111325G>A g.112775628G>A - - APC_000330 - PubMed: Friedl and Aretz 2005 - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Parent #1 g.112111325G>A g.112775628G>A - - APC_000330 - Aretz and Spier unpublished - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - F - Germany - - - no - 1 Stefan Aretz
+/+ 6i 3i c.423-1G>A pathogenic r.spl p.? splicing affected 0.000 substitution Parent #1 g.112111325G>A g.112775628G>A 423-1G>A - APC_000330 - PubMed: Lagarde et al. 2010 - - Unknown ? - - 0 - DNA SEQ ? screen APC gene (index patient) FAP-1 - Centre de Recherche en Cancérologie de Marseille, INSERM UMR891, Marseille, France - - - France - - - no - 1 Stefan Aretz
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