Individual #00056396

ID_report -
Reference PubMed: Smith 2000, Journal: Smith 2000
Remarks 5-generation family, 1 affected, unaffected heterozygous carrier parents/sib
Gender M
Consanguinity yes
Country Turkey
Population -
Age/Death >14y (later than 14 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     

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Protein     

Owner     
0000043010 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 12.0mM, serum K+ 2.8mM, urine pH 7.5 - - Isolated (sporadic) 12y 3m - - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000056356 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)     

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ISCN     

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Exon_old     

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Predicted     

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Protein level     
7 Both (homozygous) +/. g.138455888del g.138771143del V35fs - ATP6V0A4_000006 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0004 - rs587776616 Germline yes - - 0 - Johan den Dunnen ATP6V0A4 - - - - - 3 NM_020632.2:c.105del - - r.(?) p.(Gln36Serfs*5) - - - - - - - - - - - - - - - - - - -
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