Individual #00029856

ID_report -
Reference PubMed: Caburet 2014, Journal: Caburet 2014, PubMed: Caburet 2012
Remarks 5-generation family, 5 affecteds (5F), unaffected heterozygous carriers
Gender -
Consanguinity yes
Country Israel
Population Palestinian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases POF-8
Owner name Johan den Dunnen


Phenotypes

ovarian failure, premature, type 8 (POF-8) (POF-8)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000025784 see paper - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029922 DNA SEQ;SEQ-NG - - STAG3 9 Johan den Dunnen



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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ClinVar ID     

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Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

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Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
7 Both (homozygous) g.99022873C>T g.99425250C>T - - PTCD1_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen PTCD1 ?/. - - - - - 6 NM_015545.3:c.1282G>A - - r.(?) p.(Ala428Thr) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.99022873C>T g.99425250C>T - - PTCD1_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen ATP5J2-PTCD1 ?/. - - - - - 7 NM_001198879.1:c.1429G>A - - r.(?) p.(Ala477Thr) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.99786486delC - 968delC - STAG3_000002 - PubMed: Caburet 2014, Journal: Caburet 2014, OMIM:var0001 - rs587777267 Germline yes - - 0 - Johan den Dunnen STAG3 +/. - - - - - 7 NM_012447.2:c.562delC - - r.(?) p.(Gln188Argfs*8) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.100371475_100371476insG - 100371476->G - ZAN_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen ZAN +?/. - - - - - 31 NM_003386.1:c.5766_5767insG - - r.(?) p.(Cys1923fs) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.100637008C>T g.100993727C>T - - MUC12_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen MUC12 ?/. - - - - - 2 NM_001164462.1:c.3164C>T - - r.(?) p.(Ala1055Val) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.100637035A>C g.100993754A>C - - MUC12_000002 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen MUC12 ?/. - - - - - 2 NM_001164462.1:c.3191A>C - - r.(?) p.(His1064Pro) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.100637041C>A g.100993760C>A - - MUC12_000003 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen MUC12 ?/. - - - - - 2 NM_001164462.1:c.3197C>A - - r.(?) p.(Thr1066Lys) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.100839291T>A - - - MOGAT3_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen MOGAT3 ?/. - - - - - 7 NM_178176.2:c.962A>T - - r.(?) p.(Gln321Leu) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.116870061G>C g.117230007G>C (Val>Leu) - ST7_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - Johan den Dunnen ST7 -?/. - - - - - 16_ NM_021908.2:c.*7027G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
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