Screening #0000013577

Individual ID 00013661
Template DNA
Technique SEQ
Tissue leukocytes
Remarks screen APC gene (index patient)
Variants found? 2
Owner name Stefan Aretz


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
APC adenomatous polyposis coli 5 q21-q22 1 5329 1748 2019-08-02 cancer, gastric, cancer, liver, CRC, FAP-1, HDD, polyposis



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Unknown +/. g.208994404T>G g.208129680T>G - - CRYGC_000001 yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself) PubMed: Fu 2003, OMIM:var0001 - - In vitro (cloned) - - - 0 - Johan den Dunnen CRYGC - - - - - 2 NM_020989.3:c.13A>C - - r.(?) p.Thr5Pro - - - - - - - - - - - - - - - - - - -
5 Unknown +/+ g.112154723C>T g.112819026C>T - - APC_000082 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz APC - - - - - 12 NM_000038.5:c.994C>T - pathogenic r.(?) p.(Arg332*) - 9 - - - - - - - - nonsense substitution - - - - - - -
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