Screening #0000057903

Individual ID 00057940
Template DNA
Technique SEQ
Tissue White Blood Cells
Remarks -
Variants found? 2
Owner name Wided Kelmemi


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MEFV Mediterranean fever 16 p13.3 1 562 305 2019-09-02 FMF, FMFD



Variants found

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 #1 +/+? g.3293405C>T g.3243405C>T - - MEFV_000013 - - - - Germline - - - 0 - Wided Kelmemi MEFV - - - - - 10 NM_000243.2:c.2082G>A - - r.(?) p.(Met694Ile) - - - - - - - - - - - - - - - - - - -
16 Parent #2 +/+? g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - Wided Kelmemi MEFV - - - - - 10 NM_000243.2:c.2080A>G - - r.(?) p.(Met694Val) - - - - - - - - - - - - - - - - - - -
Legend