rs121908367
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606671
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776615
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776616
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776617
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1443883930
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
|
10973252 |
2000 |
rs121908368
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
|
10973252 |
2000 |
rs28939081
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
|
10973252 |
2000 |
rs1443883930
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs1443883930
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs121908368
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs28939081
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs121912748
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients.
|
12938018 |
2003 |
rs121912753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
|
15252044 |
2004 |
rs754517968
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
|
16611712 |
2006 |
rs754517968
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Importance of early audiologic assessment in distal renal tubular acidosis.
|
23754897 |
2011 |
rs763982675
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
|
27247958 |
2016 |
rs763982675
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
|
26208211 |
2016 |
rs114234874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, 14.6% of wild-type patients and 52.4% of p.E161K carriers were unable to acidify their urine below pH 5.3 and thus, can be considered to have incomplete dRTA.
|
26453614 |
2016 |
rs1443883930
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
|
29311258 |
2018 |
rs121912748
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations.
|
30124986 |
2019 |