Individual #00163051

ID_report -
Reference PubMed: Baux, Vaché et al., 2017
Remarks proband
Gender F
Consanguinity -
Country France
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DFNB
Owner name Anne-Françoise Roux


Phenotypes

deafness, autosomal recessive (DFNB) (DFNB)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000128188 deafness, autosomal recessive (DFNB) DFNB-22 - Familial, autosomal recessive - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163916 DNA SEQ;SEQ-NG-S - - 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     

Protein level     
6 Unknown +?/? ACMG VUS g.76527290C>T g.75817573C>T - - MYO6_000023 heterozygous, {MSV3dQ9UM54:p.Ala9Val} PubMed: Baux, Vaché et al., 2017 - rs199508553 Germline - - - 0 - Anne-Françoise Roux MYO6 - - - - - 2 NM_004999.3:c.26C>T - r.(=) p.(Ala9Val) - - - - - - - - - - - - - - - - - - -
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