Individual #00399744

ID_report SF42:12,13,14,15
Reference PubMed: Bakhchane 2017
Remarks -
Gender M;F
Consanguinity -
Country -
Population Moroccan
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-01-23 10:23:00 +01:00 (CET)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000292845 - autosomal recessive, non-syndromic hearing loss (ARNSHL) - Familial, autosomal recessive - - - severe congenital deafness - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400987 DNA SEQ blood - MYO7A 2 LOVD



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 (inferred) +/. - pathogenic (recessive) g.76895757T>A - c.3500T>A - MYO7A_001059 - PubMed: Bakhchane 2017 - - Unknown yes 0/100 healthy controls - - - LOVD MYO7A - - - - 27 NM_000260.3:c.3500T>A - r.(?) p.(Leu1167His) - - - - - - - - - - - - - -
11 Maternal (confirmed) +/. - pathogenic (recessive) g.76916643C>T - c.5617C>T - MYO7A_000032 - PubMed: Bakhchane 2017 - - Germline yes 0/100 healthy controls - - - LOVD MYO7A - - - - 40 NM_000260.3:c.5617C>T - r.(=) p.(Arg1873Trp) - - - - - - - - - - - - - -
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