rs72558201
|
|
Jaundice, Chronic Idiopathic
|
T |
0.810 |
CausalMutation
|
CLINVAR |
One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families.
|
11477083 |
2001 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.
|
10464142 |
1999 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families.
|
11477083 |
2001 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
|
22290738 |
2012 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects.
|
11266082 |
2001 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome.
|
11093739 |
2000 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.
|
9425227 |
1998 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.
|
10053008 |
1999 |
rs72558201
|
|
Jaundice, Chronic Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
|
25336012 |
2014 |