Individual #00019969

ID_report -
Reference PubMed: Contini 2015, Journal: Contini 2015
Remarks -
Gender M
Consanguinity -
Country Italy
Population caucasian
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NF-2
Owner name Laura Papi


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019963 DNA SEQ-NG-I blood - NF2 1 Laura Papi



Variants

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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     

Legacy protein change     

Protein level     
22 Unknown +?/+ - likely pathogenic g.30064352del g.29668363del - - NF2_000010 sporadic PubMed: Contini 2015, Journal: Contini 2015 - - Germline - 0.50 reads - 0 - Laura Papi NF2 - - - - - 10 NM_000268.3:c.916del - r.(?) p.(Leu306Tyrfs*3) - - - - - - - - - - - - - - - - - - - -
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