Individual #00163189

ID_report -
Reference PubMed: Platinga et al., 2006
Remarks proband
Gender M
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DFNA
Owner name Anne-Françoise Roux


Phenotypes

deafness, nonsyndromic (DFNA, autosomal dominant) (DFNA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000128326 - deafness, nonsyndromic (DFNA8/12) DFNA_12 Familial, autosomal dominant - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164054 DNA SEQ - - TECTA 2 Anne-Françoise Roux



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

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VIP     

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Owner     

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IDbase Accession Number     

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Haplotype     

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P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predict/PolyPhen     

Predict/PolyPhenScore     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
11 Unknown ?/? ACMG VUS g.120979969C>T g.121109260C>T - - TECTA_000013 heterozygous, {MSV3dO75443:p.Thr83Met} PubMed: Platinga et al., 2006 - rs145898158 Germline - 0/330 controls +FatI;+NlaIII;+CviAII;-Hpy166II; 0 - Anne-Françoise Roux TECTA - - - - - 3 NM_005422.2:c.248C>T - r.(?) p.(Thr83Met) - - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) +/? ACMG VUS g.121038844C>T g.121168135C>T - - TECTA_000012 heterozygous, {MSV3dO75443:p.Arg1890Cys} PubMed: Platinga et al., 2006 - rs121909063 Germline - 0/368 controls AlwNI;+BsgI;+HpyCH4V;-Sau96I;-NlaIV;-AvaII; 0 - Anne-Françoise Roux TECTA - - - - - 18 NM_005422.2:c.5668C>T - r.(?) p.(Arg1890Cys) - - - - - - - - - - - - - - - - - - - -
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