All transcript variants in gene APC


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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

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     

Owner     
+/+ 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) frameshift - insertion, small g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) frameshift - insertion, small g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) frameshift - insertion, small g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) frameshift - insertion, small g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) frameshift - insertion, small g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz
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