Individual #00441656

ID_report Pat260
Reference PubMed: Sloan-Heggen 2016
Remarks -
Gender -
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HL
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-08 16:55:33 +01:00 (CET)
Date last edited N/A


Phenotypes

hearing loss (HL) (HL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000331071 autosomal recessive non-syndromic hearing loss, congenital non-syndromic hearing loss DFNB84A Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000443142 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen



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     
12 Parent #1 +/. - pathogenic (recessive) g.80839309G>A g.80445529G>A - - PTPRQ_000045 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - Johan den Dunnen PTPRQ - - - - - NM_001145026.2:c.202G>A - r.(?) p.(Gly68Arg) - - - - - - - - - - - - - -
12 Parent #2 +/. - pathogenic (recessive) g.80865940C>A g.80472161C>A - - PTPRQ_000130 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - Johan den Dunnen PTPRQ - - - - - NM_001145026.2:c.1096C>A - r.(?) p.(Pro366Thr) - - - - - - - - - - - - - -
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