Individual #00104944

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country Israel
Population Jewish
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases ANI
Owner name Anna Alkelai


Phenotypes

anosmia, isolated (ANI) (ANI)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082943 - - - Unknown - - - - Anna Alkelai



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105419 DNA SEQ-NG-I - - - 2 Anna Alkelai



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     
7 Maternal (confirmed) ?/. g.83590853G>A g.83961537G>A - - SEMA3A_000014 - - - rs138952094 Germline yes - - 0 - Anna Alkelai SEMA3A - - - - - 16 NM_006080.2:c.2150C>T - - r.(?) p.(Thr717Ile) - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) ?/. g.38282215G>A g.38424697G>A - - FGFR1_000010 - - - - Germline yes - - 0 - Anna Alkelai FGFR1 - - - - - 7 NM_023110.2:c.748C>T - - r.(?) p.(Arg250Trp) - - - - - - - - - - - - - - - - - - -
Legend