Individual #00174097

ID_report -
Reference PubMed: Smith MJ 2014
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases meningioma
Owner name Julia Lopez


Phenotypes

meningioma, familial, susceptibility to (meningioma)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000139102 clear cell; cranial - - Familial - - 14y - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174987 DNA SEQ - - SMARCE1 1 Julia Lopez



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 Parent #1 ?/. g.38792329_38792350inv22 - p.(Glu125_Ala132delinsGlyLeuHisArgPhelleValLeu) - SMARCE1_000017 - PubMed: Smith MJ 2014 - - Germline - - - 0 - Julia Lopez SMARCE1 - - - - - 6 NM_003079.4:c.374_395inv22 - - r.(?) p.(Arg125_Gly132delinsThrPheLeuHisAlaArgLeuSer) - - - - - - - - - - - - - - - - - - -
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