Mediterranean Founder Mutation Database (MFMD)

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Last update
21/6/2017

Gene: ATP-binding cassette, sub-family C (CFTR/MRP), member 2; ABCC2


Gene Symbol: ABCC2
OMIM: 601107
Chromosome location: 10q24.2

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Dubin-Johnson syndrome || c.3517A>T

Phenotype:    Dubin-Johnson syndrome
Dna Change:    c.3517A>T
Protein Change:    p.Ile1173Phe
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 25
Transcript:    NM_000392.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNANA1500 years agoMor-Cohen R et al., 2007Mor-Cohen R, Zivelin A, Fromovich-Amit Y, Kovalski V, Rosenberg N, Seligsohn U, . Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.. Blood Coagul. Fibrinolysis. 2007; 18(2):139-44

Dubin-Johnson syndrome || c.3449G>A

Phenotype:    Dubin-Johnson syndrome
Dna Change:    c.3449G>A
Protein Change:    p.Arg1150His
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 25
Transcript:    NM_000392.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNANANAMor-Cohen R et al., 2007Mor-Cohen R, Zivelin A, Fromovich-Amit Y, Kovalski V, Rosenberg N, Seligsohn U, . Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.. Blood Coagul. Fibrinolysis. 2007; 18(2):139-44

References

Mor-Cohen R, Zivelin A, Fromovich-Amit Y, Kovalski V, Rosenberg N, Seligsohn U, Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.Blood Coagul. Fibrinolysis. 2007; 18(2):139-44

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