Transcript #00001877

Transcript name transcript variant SUR2A
Gene name ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9)
Chromosome 12
Transcript - NCBI ID NM_005691.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005682.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

337 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-11T>C benign r.(?) p.(=)
-?/. - c.48C>T likely benign r.(?) p.(=)
-?/. - c.48C>T likely benign r.(?) p.(=)
-/. - c.75T>C benign r.(?) p.(=)
-/. - c.96C>T benign r.(?) p.(=)
-?/. - c.142+15A>G likely benign r.(=) p.(=)
-/. - c.142+15dup benign r.(=) p.(=)
-?/. - c.142+15dup likely benign r.(=) p.(=)
-?/. - c.142+15dup likely benign r.(=) p.(=)
-/. - c.142+19T>A benign r.(=) p.(=)
-?/. - c.142+19T>A likely benign r.(=) p.(=)
+/. - c.178C>T pathogenic r.(?) p.(His60Tyr)
?/. - c.201G>A VUS r.(?) p.(=)
?/. - c.256G>A VUS r.(?) p.(Glu86Lys)
-/. - c.285-16G>A benign r.(=) p.(=)
-?/. - c.285-16G>A likely benign r.(=) p.(=)
-/. - c.285-16G>A benign r.(=) p.(=)
-?/. - c.290G>A likely benign r.(?) p.(Arg97Gln)
?/. - c.305T>C VUS r.(?) p.(Leu102Pro)
-?/. - c.305T>C likely benign r.(?) p.(Leu102Pro)
?/. - c.305T>C VUS r.(?) p.(Leu102Pro)
?/. - c.349_350insGAATATTATG VUS r.(?) p.(Thr117Argfs*11)
?/. - c.353_354del VUS r.(?) p.(Ser118Tyrfs*6)
-?/. - c.372T>C likely benign r.(?) p.(=)
-/. - c.372T>C benign r.(?) p.(=)
-?/. - c.372T>C likely benign r.(?) p.(=)
-?/. - c.402T>C likely benign r.(?) p.(=)
-/. - c.407-14C>A benign r.(=) p.(=)
-/. - c.407-14C>A benign r.(=) p.(=)
-?/. - c.407-14C>A likely benign r.(=) p.(=)
-/. - c.407-14C>A benign r.(=) p.(=)
-?/. - c.407-13T>C likely benign r.(=) p.(=)
-?/. - c.411G>T likely benign r.(?) p.(=)
-?/. - c.411G>T likely benign r.(?) p.(=)
-/. - c.574-5C>A benign r.spl? p.?
-/. - c.574-5C>A benign r.spl? p.?
-/. - c.574-5C>A benign r.spl? p.?
-/. - c.574-5C>A benign r.spl? p.?
-/. - c.574-5C>A benign r.spl? p.?
-/. - c.789C>T benign r.(?) p.(=)
-/. - c.789C>T benign r.(?) p.(=)
-?/. - c.798T>C likely benign r.(?) p.(=)
-?/. - c.816+11G>A likely benign r.(=) p.(=)
-/. - c.817-18del benign r.(=) p.(=)
-?/. - c.817-18del likely benign r.(=) p.(=)
-/. - c.817-18dup benign r.(=) p.(=)
-/. - c.817-18dup benign r.(=) p.(=)
-/. - c.817-18dup benign r.(=) p.(=)
-/. - c.817-17C>T benign r.(=) p.(=)
-/. - c.817-16dup benign r.(=) p.(=)
-/. - c.817-11T>C benign r.(=) p.(=)
-?/. - c.817-7del likely benign r.(=) p.(=)
-/. - c.817-7del benign r.(=) p.(=)
-/. - c.817-7del benign r.(=) p.(=)
-/. - c.817-7del benign r.(=) p.(=)
-?/. - c.817-7del likely benign r.(=) p.(=)
-/. - c.817-7dup benign r.(=) p.(=)
-?/. - c.817-6C>A likely benign r.(=) p.(=)
-?/. - c.817-3C>T likely benign r.spl? p.?
-?/. - c.817-3C>T likely benign r.spl? p.?
?/. - c.822dup VUS r.(?) p.(Val275Serfs*26)
-?/. - c.842G>A likely benign r.(?) p.(Arg281Gln)
-?/. - c.842G>A likely benign r.(?) p.(Arg281Gln)
-?/. - c.842G>A likely benign r.(?) p.(Arg281Gln)
-?/. - c.842G>A likely benign r.(?) p.(Arg281Gln)
+/. - c.873_874dup pathogenic r.(?) p.(Ala292Glufs*31)
-?/. - c.924T>C likely benign r.(?) p.(=)
-/. - c.924T>C benign r.(?) p.(=)
-?/. - c.957T>C likely benign r.(?) p.(=)
-?/. - c.989A>G likely benign r.(?) p.(Asn330Ser)
-?/. - c.1056C>T likely benign r.(?) p.(=)
-/. - c.1056C>T benign r.(?) p.(=)
-?/. - c.1092G>T likely benign r.(?) p.(=)
?/. - c.1092G>T VUS r.(?) p.(=)
-/. - c.1164+11A>G benign r.(=) p.(=)
-/. - c.1164+11A>G benign r.(=) p.(=)
-/. - c.1164+11A>G benign r.(=) p.(=)
-/. - c.1164+11A>G benign r.(=) p.(=)
-/. - c.1164+11A>G benign r.(=) p.(=)
-/. - c.1164+23C>A benign r.(=) p.(=)
-/. - c.1164+23C>A benign r.(=) p.(=)
-/. - c.1165-8_1165-6del benign r.(=) p.(=)
-?/. - c.1165-7_1165-6del likely benign r.(=) p.(=)
-/. - c.1165-7_1165-6del benign r.(=) p.(=)
-/. - c.1165-7_1165-6del benign r.(=) p.(=)
-?/. - c.1165-7_1165-6del likely benign r.(=) p.(=)
-/. - c.1165-6del benign r.(=) p.(=)
-/. - c.1165-6del benign r.(=) p.(=)
-/. - c.1165-6del benign r.(=) p.(=)
-/. - c.1165-6del benign r.(=) p.(=)
-?/. - c.1165-6del likely benign r.(=) p.(=)
-?/. - c.1165-6dup likely benign r.(=) p.(=)
-/. - c.1165-6dup benign r.(=) p.(=)
-/. - c.1165-6dup benign r.(=) p.(=)
-?/. - c.1165-6dup likely benign r.(=) p.(=)
-/. - c.1165-6dup benign r.(=) p.(=)
-/. - c.1165-6dup benign r.(=) p.(=)
-?/. - c.1165-5G>T likely benign r.spl? p.?
-?/. - c.1165-5G>T likely benign r.spl? p.?
-?/. - c.1165-4G>T likely benign r.spl? p.?
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