Unique variants in gene ABHD1

Information The variants shown are described using the NM_032604.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Owner     
?/? 1 c.-4750G>C r.(=) p.(=) utr-5 g.27342067G>C chr2_003673 rs7560633 0.6110000014305115 Ivo F.A.C. Fokkema
?/? 1 c.-2360T>A r.(=) p.(=) utr-5 g.27344457T>A chr2_003674 rs11126871 0.2669999897480011 Ivo F.A.C. Fokkema
?/? 1 c.-1333G>A r.(=) p.(=) utr-5 g.27345484G>A chr2_003675 rs7605526 0.18299999833106995 Ivo F.A.C. Fokkema
?/? 1 c.411T>G r.(?) p.(Asp137Glu) missense g.27351948T>G chr2_003681 rs6715286 0.6729999780654907 Ivo F.A.C. Fokkema
?/? 1 c.*561C>A r.(=) p.(=) utr-3 g.27354173C>A chr2_003682 rs11126874 -0.17299999296665192 Ivo F.A.C. Fokkema
?/? 1 c.*1842A>C r.(=) p.(=) utr-3 g.27355454A>C chr2_003683 rs4665948 0.6449999809265137 Ivo F.A.C. Fokkema
?/? 1 c.*3317G>C r.(=) p.(=) utr-3 g.27356929G>C chr2_003684 rs72810711 0.5519999861717224 Ivo F.A.C. Fokkema
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