Individual #00466091

ID_report FamPatIV2/IV6/V2/V8
Reference PubMed: Rohlin 2016
Remarks 5-generation family, several affected
Gender F
Consanguinity -
Country Sweden
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases FAP
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-08-05 16:12:49 +02:00 (CEST)
Date last edited N/A


Phenotypes

adenomatous polyposis, familial (FAP) (FAP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000351477 see paper; ..., colorectal polyps attenuated/atypical polyposis syndrome HMPS Familial, autosomal dominant - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467748 DNA arraySNP;SEQ-NG - WES - 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
15 Parent #1 ?/. - VUS (!) g.31332488C>G g.31040285C>G 2200G>C (Ala734Pro) - TRPM1_000039 rare variant unlikely to be disease causing PubMed: Rohlin 2016 - - Germline yes 2/248 controls - - - Johan den Dunnen TRPM1 - - - - - NM_001252020.1:c.2200G>C, NM_001252024.1:c.2149G>C, NM_002420.5:c.2083G>C - r.(?) p.(Ala734Pro), p.(Ala717Pro), p.(Ala695Pro) - - - - - - - - - - - - - -
15 Parent #1 +/. other pathogenic (dominant) g.32986220_33002449dup g.32694019_32710248dup - - GREM1_000007 16kb duplication PubMed: Rohlin 2016 - - Germline yes - - - - Ian Frayling GREM1, SCG5 - - - - _1, NM_013372.6:c.-24144_-7915dup, NM_003020.3:c.540+2256_*13639dup - r.=|>1, r.? p.(=), p.? - - - - - - - - - - - - - -
15 Parent #1 ?/. - VUS g.33010288C>G g.32718087C>G - - GREM1_000006 - PubMed: Rohlin 2016 - - Germline yes - - - - Johan den Dunnen GREM1 - - - - - NM_013372.6:c.-76C>G - r.(?) p.(=) - - - - - - - - - - - - - -
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