Individual #00154480

ID_report 19363479-Fam2
Reference PubMed: Mencia 2009
Remarks 4-generation family, 4 affecteds (F, 3M)
Gender F;M
Consanguinity no
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases DFNA
Owner name Johan den Dunnen


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     
0000127219 see paper; ..., progressive, high-frequency hearing loss - DFNA-50 Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155340 DNA DHPLC;SEQ - - MIR96 1 Johan den Dunnen



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     
7 Parent #1 +/. - pathogenic g.129414596G>T g.129774756G>T - - MIR96_000002 not in 924 control chromosomes PubMed: Mencia 2009 - - Germline yes - - 0 - Johan den Dunnen MIR96 - - - - - 1 NR_029512.1:n.14C>A - r.14c>a - - - - - - - - - - - - - - - - - - - - -
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