Individual #00080832

ID_report Ind040
Reference Trujillano et al., submitted
Remarks unaffected heterozygous carrier mother, father not available
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NF-1
Owner name Daniel Trujillano


Phenotypes

neurofibromatosis, type 1 (NF-1) (NF-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000060401 Neurofibromatosis type 1 (OMIM:162200) - - Familial, autosomal dominant - - - - - Daniel Trujillano



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080944 DNA SEQ;SEQ-NG - - NF1 1 Daniel Trujillano



Variants

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 Maternal (confirmed) ?/? g.29483047C>G g.31156029C>G - - NF1_002247 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano NF1 - - - - - 2 NM_000267.3:c.107C>G - VUS r.(?) p.(Thr36Ser) - - - - - - - - - - nonsense substitution - - - - - - -
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