Individual #00056397

ID_report -
Reference PubMed: Smith 2000, Journal: Smith 2000
Remarks family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity yes
Country Turkey
Population -
Age/Death >04y (later than 4 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RTADR
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     

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Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000043011 history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.23, serum HCO3- 16.0mM, serum K+ 2.1mM, urine pH 6.8 - - Isolated (sporadic) 2y6m 8m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056357 DNA 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     

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Segregation     

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VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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ClassClinical     

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Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Both (homozygous) +/. g.138417791A>G g.138733046A>G M580T - ATP6V0A4_000005 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0005 - rs3807153 Germline yes - - 0 - Johan den Dunnen ATP6V0A4 - - - - - 17 NM_020632.2:c.1739T>C - - r.(?) p.(Met580Thr) - - - - - - - - - - - - - - - - - - -
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