Individual #00363273

ID_report Pat44
Reference PubMed: Neuhaus 2017
Remarks -
Gender -
Consanguinity no
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Usher syndrome (USH) (USH)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000258638 Usher syndrome, type II - - Familial, autosomal recessive 43y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364501 DNA MLPA;SEQ - - USH2A 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
1 Parent #2 +/. - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD USH2A - - - - - - NM_206933.2:c.? - r.? p.? - - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 - PubMed: Neuhaus 2017 - rs80338903 Germline - - - 0 - LOVD USH2A - - - - - - NM_206933.2:c.2299del - r.(?) p.(Glu767Serfs*21) - - - - - - - - - - - - - - - - - - - -
Legend   How to query