Screening #0000019936

Individual ID 00019943
Template DNA
Technique SEQ
Tissue Peripheral blood
Remarks -
Variants found? 1
Owner name Alessandro De Luca


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
NF1 neurofibromin 1 17 q11.2 1 4967 2739 2019-11-13 ID, JMML;CMML, NF, NF-1, NFNS, Watson, melanoma, desmoplastic neurotrophic, neurofibromatosis, familial spinal



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     
17 Parent #1 +/+ g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - Alessandro De Luca NF1 - - - - - 38 NM_000267.3:c.5425C>T - pathogenic r.(?) p.(Arg1809Cys) - - - - - - - - - - missense substitution - - - - - - -
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