Screening #0000050772

Individual ID 00050827
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 1
Owner name Marc Tischkowitz


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
PALB2 partner and localizer of BRCA2 16 p12.1 1 1497 634 2019-10-26 FANCN, PNCA-3, cancer, breast, familial



Variants found

1 entry on 1 page. Showing entry 1.
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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     
16 Unknown -?/- g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Erkko2007 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - Marc Tischkowitz PALB2 - - - - - 8 NM_024675.3:c.2794G>A - likely benign r.(?) p.(Val932Met) - - - - - - - - - - - - - - - - - - -
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