Transcobalamin II deficiency
OMIM:275350Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Polymorphisms
| Gene symbol | TCN2 | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001184726.1 | ||||||||||||||||||||
| DNA Change | c.776C>G | ||||||||||||||||||||
| A.A. Change | p.Pro259Arg | ||||||||||||||||||||
| Exon/Intron | exon 6 | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs1801198 | ||||||||||||||||||||
| Cases | |||||||||||||||||||||
| Controls | 81 apparently healthy participants | ||||||||||||||||||||
| Frequency |
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| Reference | Gueant JL, Chabi NW, Gueant-Rodriguez RM, Mutchinick OM, Debard R, Payet C, Lu X, Villaume C, Bronowicki JP, Quadros EV, Sanni A, Amouzou E, Xia B, Chen M, Anello G, Bosco P, Romano C, Arrieta HR, S?nchez BE, Romano A, Herbeth B, Anwar W, Namour F.Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2). J Med Genet. 2007 Jun;44(6):363-7. |