Individual #00056391

ID_report -
Reference PubMed: Kose 2014, Journal: Kose 2014
Remarks -
Gender F
Consanguinity yes
Country Turkey
Population -
Age/Death >18y (later than 18 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RTADR, SNHL
Owner name Johan den Dunnen


Phenotypes

acidosis, tubular, renal, distal, autosomal recessive (RTADR) (RTADR)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000043000 see paper, extensive description - - Isolated (sporadic) 18y - 03y weight loss, recurrent urinary tract infections - Johan den Dunnen

hearing loss, sensorineural (SNHL) (SNHL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000043001 see paper; extensive description - - Isolated (sporadic) - - 03y bilateral SNHL - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056351 DNA PCR;SEQ - - ATP6V0A4 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Both (homozygous) +/- g.138455988A>G g.138771243A>G - - ATP6V0A4_000001 NOTE: variant reported as disease associated (RTADR, SNHL) which is in conflict with the frequency observed in controls (up to 70%) PubMed: Kose 2014, Journal: Kose 2014 - rs10258719 Unknown - - - 0 - Johan den Dunnen ATP6V0A4 - - - - - 3 NM_020632.2:c.5T>C - - r.(?) p.(Val2Ala) - - - - - - - - - - - - - - - - - - -
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