Individual #00168383

ID_report ?
Reference PubMed: Liu 1997(2)
Remarks Proband
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases USH1B
Owner name Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2010-03-01 11:27:51 +01:00 (CET)
Date last edited 2010-05-31 16:05:34 +02:00 (CEST)


Phenotypes

Usher syndrome, type Ib (USH-1B) (USH1B)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000133243 Usher type I USH-1B - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169255 DNA SEQ - - - 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     
11 Parent #2 -/- - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Liu 1997(2); USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - Anne-Françoise Roux MYO7A - - - - 3 NM_000260.3:c.47T>C - r.(?) p.(Leu16Ser) - - - - - - - - - - - - - -
11 Parent #1 +/+ - pathogenic g.76873907del g.77162861del 1563delC - MYO7A_000194 Heterozygous PubMed: Liu 1997(2) - - Germline - 0/90 controls -MslI - - Anne-Françoise Roux MYO7A - - - - 14 NM_000260.3:c.1563del - r.(?) p.(Asp521Glufs*8) Motor domain (1-729) - - - - - - - - - - - - -
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