Individual #00205885

ID_report -
Reference Messiaen UAB, unpublished
Remarks -
Gender F
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     
0000154026 - - no CALMs / diffuse histological confirmed gastric neurofibromas / bone cysts on wrist and scoliosis / segmental NF is possible / unknown family history. NF1 testing on blood negative Unknown - 37y - - - - - Ludwine Messiaen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206915 DNA SEQ blood - SPRED1 1 Ludwine Messiaen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.38545412A>T g.38253211A>T - - SPRED1_000001 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - Ludwine Messiaen SPRED1 - - - - 1 NM_152594.2:c.26A>T - r.26a>u p.Asp9Val - - - - - - - - - - - - - - - - - - -
Legend   How to query