Individual #00163196

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Korea
Population Mongolian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DFNA
Owner name Byung Yoon Choi


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     
0000128333 high frequency hearing loss deafness, nonsyndromic (DFNA8/12) DFNA_12 Familial, autosomal dominant - - - - - Byung Yoon Choi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164061 DNA SEQ-NG-S - - TECTA 1 Byung Yoon Choi



Variants

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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     
11 Maternal (confirmed) +?/? ACMG VUS g.120984347C>T g.121113638C>T - - TECTA_000051 heterozygous, {MSV3dO75443:p.Thr237Ile} - - - Germline - - - 0 - Byung Yoon Choi TECTA - - - - - 5 NM_005422.2:c.710C>T - r.(?) p.(Thr237Ile) - - - - - - - - - - - - - - - - - - - -
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