Full data view for gene APC


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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promotor c.(?_-85)_(645+1_646-1)del r.0 p.0 deletion, large - deletion, large Unknown - pathogenic g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Nielsen et al. 2007a; PubMed: Nielsen et al. 2007b - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Netherlands - - - ? - 1 Stefan Aretz
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