Individual #00283904

ID_report -
Reference PubMed: Miyagawa 2013
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases deafness
Owner name Global Variome, with Curator vacancy


Phenotypes

deafness (deafness)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000218471 - deafness - Unknown - - - - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000285054 DNA ? - - EYA1 1 Global Variome, with Curator vacancy



Variants

1 entry on 1 page. Showing entry 1.
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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     

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     
8 Parent #1 +/+ - pathogenic g.72233984C>T g.71321749C>T - - EYA1_000202 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy EYA1 - - - - - - NM_000503.4:c.403G>A - r.(?) p.(Gly135Ser) - - - - - - - - - - - - - - - - - - - -
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