Individual #00163090

ID_report -
Reference PubMed: Melchionda et al., 2001
Remarks relative
Gender F
Consanguinity -
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DFNA
Owner name Anne-Françoise Roux


Phenotypes

deafness, nonsyndromic (DFNA, autosomal dominant) (DFNA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000128227 - deafness, nonsyndromic (DFNA) DFNA-22 Familial, autosomal dominant - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163955 DNA SEQ - - MYO6 1 Anne-Françoise Roux



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     
6 Maternal (confirmed) +/+ ACMG VUS g.76566915G>A g.75857198G>A - - MYO6_000001 heterozygous, {MSV3dQ9UM54:p.Cys442Tyr} PubMed: Melchionda et al., 2001 - rs121912557 Germline - 0/800 controls - 0 - Anne-Françoise Roux MYO6 - - - - - 13 NM_004999.3:c.1325G>A - r.(?) p.(Cys442Tyr) Motor domain (57-771) - - - - - - - - - - - - - - - - - - -
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