Individual #00081726

ID_report -
Reference PubMed: Young 2012, Journal: Young 2012
Remarks 3-generation family, 6 affecteds (3F, 3M), sister/brother (III2), father, grandfather (and his 2 sisters)
Gender F;M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 6
Diseases KAL
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

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Protein     

Owner     
0000061368 see paper; ..., hypogonadism, right cryptorchidism, hyposmia, bilateral hypoplasia olfactory bulbs, ... - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000081855 DNA arrayCNV - - SEMA3A 1 Johan den Dunnen



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     

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Exon     

DNA change (cDNA)     

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ClassClinical     

RNA change     

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P-domain     

Exon_old     

DNA/Legacy     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Protein level     
7 Paternal (confirmed) +/? g.(83463000_83587659)_(83643668_83675639)_del - - - SEMA3A_000000 213 kb deletion, not in 1040 control chromosomes; no variants on other allele; Hanchate (2012) question the autosomal dominant mendelian inheritance and suggested a variant in another gene combined with SEMA3A haploinsufficiency associates with the disease phenotype PubMed: Young 2012, Journal: Young 2012, OMIM:var0001, PubMed: Hanchate 2012 - - Germline yes - - 0 - Johan den Dunnen SEMA3A - - - - - 6i_17_ NM_006080.2:c.(667+1_668-1)_(*3028_?)del - - r.? p.? - - - - - - - - - - - - - - - - - - -
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