Individual #00050830

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PNCA-3, cancer, breast, familial
Owner name Marc Tischkowitz


Phenotypes

cancer, breast, familial (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000037442 - - - Unknown - - - - - - Marc Tischkowitz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050775 DNA ? - - PALB2 1 Marc Tischkowitz



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
16 Unknown -?/- g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Prokofyeva2012 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - Marc Tischkowitz PALB2 - - - - - 8 NM_024675.3:c.2794G>A - likely benign r.(?) p.(Val932Met) - - - - - - - - - - - - - - - - - - -
Legend