Individual #00408987

ID_report 16
Reference PubMed: Puffenberger 2012
Remarks no patient number in publication, consecutive numbers given
Gender ?
Consanguinity -
Country -
Population Old Order Amish and Mennonite
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases USH3B
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-29 17:32:37 +02:00 (CEST)
Date last edited N/A


Phenotypes

Usher syndrome, type 3B (USH-3B) (USH3B)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000301105 retinitis pigmentosa; progressive sensorineural hearing loss; episodic psychosis - Familial, autosomal recessive - Usher syndrome, type 3B (USH-3B) - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000410252 DNA arraySNP;SEQ-NG;SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel HARS 1 LOVD



Variants

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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     
5 Both (homozygous) +?/. - likely pathogenic g.140054361T>G g.140674776T>G HARS c.1361A>C, p.Tyr454Ser - HARS_000023 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - - - LOVD HARS - - - - - NM_002109.3:c.1361A>C - r.(?) p.(Tyr454Ser) - - - - - - - - - - - - - -
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