All transcript variants in gene APC


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

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - deletion, small g.112111315A>G g.112775618A>G - - APC_000384 - Vogt and Aretz (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.spl? p.? - - substitution g.112111315A>G g.112775618A>G - - APC_000384 UV (splice?) Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - - substitution g.112111315A>G g.112775618A>G r.422_423insAAAAAAATAG - APC_000384 UV (splice?) Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - substitution g.112111315A>G g.112775618A>G - - APC_000384 - Aretz and Spier unpublished - - Unknown ? - - 0 - Stefan Aretz
+/+ 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1 p.Ser142Lysfs*3 splicing affected - substitution g.112111315A>G g.112775618A>G - - APC_000384 - Aretz and Spier unpublished - - Unknown ? - - 0 - Stefan Aretz
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