Individual #00104801

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country Morocco
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases FMF
Owner name Fatima Zahra Laarabi


Phenotypes

fever, Mediterranean, familial, autosomal recessive (FMF) (FMF)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082695 - - - Familial, autosomal recessive - - - - - Fatima Zahra Laarabi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105275 DNA SEQ - - MEFV 2 Fatima Zahra Laarabi



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
16 Parent #2 +/. g.3293404_3293406del g.3243404_3243406del - - MEFV_000022 - - - - Germline - - - - - Fatima Zahra Laarabi MEFV - - - - - 10 NM_000243.2:c.2081_2083del - - r.(?) p.(Met694del) - - - - - - - - - - - - - - - - - - -
16 Parent #1 +/. g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - Fatima Zahra Laarabi MEFV - - - - - 10 NM_000243.2:c.2080A>G - - r.(?) p.(Met694Val) - - - - - - - - - - - - - - - - - - -
Legend