Individual #00205926

ID_report -
Reference PubMed: Spencer 2011
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000154067 - - >6 typical CALMs / bilateral axillary freckling / 2-6 possible neurofibromas and comprehensive NF1 testing negative; daughter reportedly also has NF1 and NF1 testing negative Unknown - 37y - - - - - Ludwine Messiaen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206956 DNA;RNA SEQ;SEQ;MLPA 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.38591612G>A g.38299411G>A - - SPRED1_000015 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen SPRED1 - - - - 2 NM_152594.2:c.71G>A - r.71g>a p.Arg24Gln - - - - - - - - - - - - - - - - - - -
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