Individual #00163384

ID_report -
Reference PubMed: Matsunaga 2012
Remarks -
Gender F
Consanguinity -
Country Japan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases deafness
Owner name Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by David Baux
Date created 2013-12-03 10:42:47 +01:00 (CET)
Date last edited 2025-05-16 15:55:39 +02:00 (CEST)


Phenotypes

deafness (deafness)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000128521 degree of hearing loss: profound non-syndromic recessive auditory neuropathy 1 (NSRAN1) DFNB-9 (AUNB-1) Familial, autosomal recessive - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164249 DNA SEQ - - OTOF 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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Parent #1 +/+ - pathogenic g.26683071C>T g.26460203C>T - - OTOF_000148 heterozygous, {MSV3dQ9HC10:p.Arg1939Gln} PubMed: Matsunaga et al,.2012 - - Germline - 1/378 - - - Anne-Françoise Roux OTOF - - - - 50 NM_194248.2:c.5816G>A - r.(?) p.(Arg1939Gln) - - - - - - - - - - - - - -
2 Parent #2 +/+ - pathogenic g.26717805C>T g.26494937C>T - - OTOF_000149 Heterozygous PubMed: Matsunaga et al,.2012 - - Germline - 0/362 - - - Anne-Françoise Roux OTOF - - - - 9 NM_194248.2:c.897+5G>A - r.(?) p.? - - - - - - - - - - - - - -
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