Individual #00205936

ID_report -
Reference PubMed: Spencer 2011
Remarks carries a pathogenic NF2 mutation
Gender -
Consanguinity -
Country India
Population Indian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NF2
Owner name Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen


Phenotypes

neurofibromatosis, type 2 (NF-2) (NF2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000154077 6-10 CAL-spots / spinal tumors and bilateral vestibular schwannomas / NF1 testing negative - - Unknown - 8y - - - Ludwine Messiaen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206966 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen



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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     
15 Unknown ?/? - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - Ludwine Messiaen SPRED1 - - - - 2 NM_152594.2:c.124G>A - r.124g>a p.Val42Ile - - - - - - - - - - - - - - - - - - -
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