Screening #0000242354

Individual ID 00241242
Template DNA
Technique SEQ
Tissue meningioma
Remarks -
Variants found? 2
Owner name Anja Bukovac


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TP53 tumor protein p53 17 p13.1 1 336 189 2019-09-30 cancer, liver, cancer, pancreatic, CRC, GLM-1, LFS-1, Adrenocortical carcinoma, hereditary, Basal cell carcinoma, susceptibility to, 7, cancer, breast, familial, Choroid plexus papilloma, Nasopharyngeal carcinoma, osteosarcoma



Variants found

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     
17 Unknown ?/. g.7579372G>A g.7676054G>A - - TP53_010126 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.315C>T - VUS r.(?) p.(Gly105=) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.7579501del g.7676183del 186delA - TP53_010141 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.186del - pathogenic r.(?) p.(Ala63Leufs*60) - - - - - - - - - - - - - - - - - - -
Legend