All variants in the APC gene


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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

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     

Owner     
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 - - - - Germline ? - - 0 - Elke Holinski-Feder
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T codon 99, CGG --> TGG - APC_000420 - PubMed: Dobbie et al. 1996 - - Germline ? - - 0 - Stefan Aretz
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 rare variant Vogt and Aretz (unpublished) - - Unknown ? - - 0 - Stefan Aretz
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 rare variant Vogt and Aretz (unpublished) - - Unknown ? - - 0 - Stefan Aretz
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 - - - - Unknown ? - - 0 - Elke Holinski-Feder
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 - Carli Tops (unpublished) - - Unknown ? - - 0 - Carli Tops
?/? 6 3 c.295C>T r.(?) p.(Arg99Trp) missense - substitution - VUS g.112102960C>T g.112767263C>T - - APC_000420 rare variant Vogt and Aretz (unpublished) - - Unknown ? - - 0 - Stefan Aretz
?/. - - c.295C>T r.(?) p.(Arg99Trp) - - - - VUS g.112102960C>T g.112767263C>T APC(NM_000038.4):c.295C>T (p.R99W), APC(NM_000038.5):c.295C>T (p.(Arg99Trp)), APC(NM_001127511.1):c.295C>T (p.R99W) - APC_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - - c.295C>T r.(?) p.(Arg99Trp) - - - - benign g.112102960C>T g.112767263C>T APC(NM_000038.4):c.295C>T (p.R99W), APC(NM_000038.5):c.295C>T (p.(Arg99Trp)), APC(NM_001127511.1):c.295C>T (p.R99W) - APC_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - - c.295C>T r.(?) p.(Arg99Trp) - - - - likely benign g.112102960C>T g.112767263C>T APC(NM_000038.4):c.295C>T (p.R99W), APC(NM_000038.5):c.295C>T (p.(Arg99Trp)), APC(NM_001127511.1):c.295C>T (p.R99W) - APC_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - - c.295C>T r.(?) p.(Arg99Trp) - - - - VUS g.112102960C>T g.112767263C>T APC(NM_000038.4):c.295C>T (p.R99W), APC(NM_000038.5):c.295C>T (p.(Arg99Trp)), APC(NM_001127511.1):c.295C>T (p.R99W) - APC_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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