Individual #00073042

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Mali
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer
Owner name Audrey Remenieras


Phenotypes

cancer (cancer)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cancer/Sub_type     

Owner     
0000052733 papillary - - Unknown - - - - - - - RCC Audrey Remenieras



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073199 DNA SEQ - - FH 4 Audrey Remenieras



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     
1 Unknown -/-? - - g.241663825G>A g.241500525G>A p.Cys391Cys - FH_000129 Fh activity : normal - - rs12087951 Unknown - - - 0 - Audrey Remenieras FH - - - - - 9 NM_000143.3:c.1302C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown -/-? - - g.241669249C>T g.241505949C>T p.? - FH_000142 Fh enzymatic activity: normal - - - Unknown - - - 0 - Audrey Remenieras FH - - - - - 6i NM_000143.3:c.904+54G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown -/-? - - g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 Fh activity : normal - - rs10926501 Unknown - - - 0 - Audrey Remenieras FH - - - - - 3 NM_000143.3:c.309C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown -/-? - - g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity: normal - - - Unknown - - - 0 - Audrey Remenieras FH - - - - - 1i NM_000143.3:c.132+71C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend