Individual #00168672

ID_report ?
Reference PubMed: Street 2004
Remarks Relative
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases DFNA1
Owner name Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2011-03-29 09:48:40 +02:00 (CEST)
Date last edited N/A


Phenotypes

deafness, autosomal dominant, type 1 (DFNA1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000133532 - autosomal dominant deafness DFNA-11 Familial, autosomal dominant - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169544 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 Paternal (confirmed) -?/? ACMG likely benign g.76835454C>T g.77124408C>T - - MYO7A_000357 Heterozygous; modifier: binds YY1 which reduces expression of MYO7A. Described in trans of a DFNA11 allele, increases the severity of the phenotype. PubMed: Street 2004 - rs10899353 Germline - - +BccI;-BsmBI;-BceAI;-BsmAI; - - Anne-Françoise Roux MYO7A - - - - _1 NM_000260.3:c.-4128C>T - r.(?) p.(?) 5'gene - - - - - - - - - - - - -
11 Maternal (confirmed) +/? ACMG likely pathogenic g.76886487G>C g.77175441G>C - - MYO7A_000232 Heterozygous PubMed: Street 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/200 controls none - - Anne-Françoise Roux MYO7A - - - - 18 NM_000260.3:c.2164G>C - r.(?) p.(Gly722Arg) Motor domain (1-729) - - - - - - - - - - - - -
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