Individual #00168949

ID_report -
Reference PubMed: Dai 2008
Remarks Proband
Gender M
Consanguinity -
Country China
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH-2
Owner name Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux


Phenotypes

Usher syndrome, type II (USH-2) (USH-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000133810 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169822 DNA SEQ - - - 2 Anne-Françoise Roux



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.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Dai 2008 - rs397518039 Germline - 0/200 controls - 0 - Anne-Françoise Roux USH2A - - - - - 42i NM_206933.2:c.8559-2A>G - r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/+ - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.98_99insT - r.(?) p.(Arg34Thrfs*41) - - - - - - - - - - - - - - - - - - - -
Legend   How to query