rs121912748
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
15211439
2004
rs121912754
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
15211439
2004
rs121912748
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.
10926824
2000
rs121912754
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.
10926824
2000
rs121912748
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
9854053
1998
rs121912754
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800
GeneticVariation
UNIPROT
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
9854053
1998
rs121912748
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
T
0.800
CausalMutation
CLINVAR
rs121912754
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
G
0.800
CausalMutation
CLINVAR
rs121912753
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.700
GeneticVariation
UNIPROT
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
15211439
2004
rs121912745
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
A
0.700
CausalMutation
CLINVAR
rs121912752
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
T
0.700
CausalMutation
CLINVAR
rs28931584
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
T
0.700
CausalMutation
CLINVAR