Individual #00081734

ID_report -
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012
Remarks targeted sequencing in 386 Kallmann syndrome patients, 1 affected
Gender M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases KAL
Owner name Johan den Dunnen


Phenotypes

Kallmann syndrome (KAL) (KAL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061377 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081863 DNA SEQ - - KAL1, SEMA3A 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
7 Unknown +/. g.83590941T>C g.83961625T>C - - SEMA3A_000010 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen SEMA3A - - - - - 17 NM_006080.2:c.2062A>G - - r.(?) p.(Thr688Ala) - - - - - - - - - - - - - - - - - - -
X Unknown +/. g.8555912A>C g.8587871A>C Y217D - KAL1_000012 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - Johan den Dunnen KAL1 - - - - - 5 NM_000216.2:c.649T>G - - r.(?) p.(Tyr217Asp) - - - - - - - - - - - - - - - - - - -
Legend