Individual #00163208

ID_report -
Reference PubMed: Hildebrand et al., 2011
Remarks proband
Gender F
Consanguinity -
Country Spain
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     
0000128345 - deafness, nonsyndromic (DFNA8/12) DFNA_12 Familial, autosomal dominant - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164073 DNA DHPLC;SEQ - - TECTA 1 Anne-Françoise Roux



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
11 Paternal (inferred) +/? ACMG VUS g.121008295G>A g.121137586G>A - - TECTA_000037 heterozygous, {MSV3dO75443:p.Cys1036Tyr} PubMed: Hildebrand et al., 2011 - - Germline - 0/200 controls -BsaXI (2); 0 - Anne-Françoise Roux TECTA - - - - - 10 NM_005422.2:c.3107G>A - r.(?) p.(Cys1036Tyr) - - - - - - - - - - - - - - - - - - - -
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