Individual #00048062

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Denmark
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MINAS
Owner name James Whitworth


Phenotypes

neoplasia, multiple inherited alleles (MINAS) (MINAS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000034773 pneumothorax 37y; Endometrial cancer 52y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048187 DNA SEQ - - FLCN, MSH2 2 James Whitworth



Variants

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.47641507C>T g.47414368C>T - - MSH2_000234 - - - - Germline - - - 0 - James Whitworth MSH2 - - - - - 5 NM_000251.2:c.892C>T - pathogenic r.(?) p.(Gln298*) - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ g.17119709del g.17216395del 1285delC - FLCN_000030 - - - - Germline - - - 0 - James Whitworth FLCN - - - - - 11 NM_144997.5:c.1285del - pathogenic r.(?) p.(His429Thrfs*39) - - - - - - - - - - - - - - - - - - -
Legend