Transcript #00001876

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Gene name ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8)
Chromosome 11
Transcript - NCBI ID NM_000352.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000343.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

412 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_39_ c.(?_-1)_(*1_)del pathogenic r.0? p.0?
+/. _1_6i c.(?_-1)_(1011+1_1012-1)del pathogenic r.0? p.0?
+/. 1 c.19G>T pathogenic r.(?) p.(Gly7Cys)
+/. 1 c.25G>T pathogenic r.(?) p.(Glu9*)
+/. 1 c.29del pathogenic r.(?) p.(Asn10Thrfs*68)
?/. 1 c.40G>T VUS r.(?) p.(Ala14Ser)
?/. 1 c.44A>T VUS r.(?) p.(Tyr15Phe)
+/. 1 c.55C>T pathogenic r.(?) p.(Gln19*)
?/. - c.61del VUS r.(?) p.(Val21Serfs*57)
+/. 1 c.74del pathogenic r.(?) p.(Gly25Alafs*53)
+/. 1 c.78C>G pathogenic r.(?) p.(Cys26Trp)
+/. 1 c.81_82insA pathogenic r.(?) p.(Val28Serfs*61)
?/. - c.91C>T VUS r.(?) p.(Leu31Phe)
-?/. - c.105G>A likely benign r.(?) p.(=)
?/. 1 c.121T>C VUS r.(?) p.(Phe41Leu)
+/. 1 c.137T>C pathogenic r.(?) p.(Ile46Thr)
+/. 1i c.148+1G>A pathogenic r.spl p.?
+/. - c.(148+1_149-1)_(290+1_291-1)del pathogenic r.? p.?
+/. 2 c.173T>A pathogenic r.(?) p.(Val58Glu)
?/. 2 c.175C>A VUS r.(?) p.(His59Asn)
+/. 2 c.195G>A pathogenic r.(?) p.(Trp65*)
-/. - c.207T>C benign r.(?) p.(=)
-/. - c.207T>C benign r.(?) p.(=)
+/. 2 c.221G>T pathogenic r.(?) p.(Arg74Leu)
+/. 2 c.225_229del pathogenic r.(?) p.(Trp75Cysfs*12)
-?/. - c.262G>A likely benign r.(?) p.(Glu88Lys)
-?/. - c.279C>A likely benign r.(?) p.(=)
-?/. - c.290+7G>A likely benign r.(=) p.(=)
-?/. - c.290+18del likely benign r.(=) p.(=)
-?/. - c.291-3C>T likely benign r.spl? p.?
?/. 3 c.291G>T VUS r.(?) p.(Gly96=)
+/. - c.(290+1_291-1)_(822+1_823-1)del pathogenic r.? p.?
-/. - c.330C>T benign r.(?) p.(=)
-/. - c.330C>T benign r.(?) p.(=)
-?/. - c.354C>T likely benign r.(?) p.(=)
?/. 3 c.361G>A VUS r.(?) p.(Val121Met)
?/. 3 c.362T>C VUS r.(?) p.(Val121Ala)
?/. 3 c.380T>C VUS r.(?) p.(Ile127Thr)
+/. 3 c.398C>G pathogenic r.(?) p.(Pro133Arg)
?/. 3 c.410T>G VUS r.(?) p.(Ile137Ser)
-/. - c.412+77G>A benign r.(=) p.(=)
-?/. - c.413-18T>C likely benign r.(=) p.(=)
+/. - c.(412+1_413-1)_(579+1_580-1)del pathogenic r.? p.?
+/. 4 c.415del pathogenic r.(?) p.(Leu139Cysfs*38)
-?/. - c.423G>A likely benign r.(?) p.(=)
?/. - c.502C>T VUS r.(?) p.(Arg168Cys)
?/. - c.517G>A VUS r.(?) p.(Gly173Arg)
+/. 4 c.522dup pathogenic r.(?) p.(Leu175Alafs*97)
-/. - c.579+14C>T benign r.(=) p.(=)
-/. - c.579+14C>T benign r.(=) p.(=)
-?/. - c.579+18G>A likely benign r.(=) p.(=)
?/. 4i c.580-16_580-14del VUS r.spl? p.?
+/. 4i c.580-3C>G pathogenic r.spl? p.?
+/. 4i c.580-2A>G pathogenic r.spl p.?
?/. 5 c.581G>A VUS r.(?) p.(Arg194Lys)
?/. 5 c.602C>T VUS r.(?) p.(Pro201Leu)
?/. - c.616C>T VUS r.(?) p.(Pro206Ser)
+/. 5 c.617C>T pathogenic r.(?) p.(Pro206Leu)
+/. 5 c.635A>G pathogenic r.(?) p.(Asp212Gly)
+/. 5 c.636C>G pathogenic r.(?) p.(Asp212Glu)
+?/. - c.638T>C likely pathogenic r.(?) p.(Leu213Pro)
+/. - c.655C>T pathogenic r.(?) p.(Gln219*)
+/. 5 c.674_675insCACGAAGTAGCA pathogenic r.(?) p.(Ser226_Asp1580delinsThr)
+/. 5 c.689A>G pathogenic r.(?) p.(Tyr230Cys)
+/. 5 c.704C>T pathogenic r.(?) p.(Ala235Val)
?/. 5 c.718G>A VUS r.(?) p.(Ala240Thr)
-?/. 5 c.747C>T likely benign r.(?) p.(=)
-?/. - c.750C>A likely benign r.(?) p.(=)
-?/. - c.750C>T likely benign r.(?) p.(=)
?/. - c.751G>A VUS r.(?) p.(Gly251Arg)
?/. - c.760C>A VUS r.(?) p.(Pro254Thr)
+/. 5 c.761C>T pathogenic r.(?) p.(Pro254Leu)
?/. 5 c.769A>C VUS r.(?) p.(Met257Leu)
?/. 5 c.770T>C VUS r.(?) p.(Met257Thr)
-?/. - c.793C>A likely benign r.(?) p.(=)
?/. 5 c.809T>G VUS r.(?) p.(Phe270Cys)
-?/. - c.822+20C>T likely benign r.(=) p.(=)
?/. - c.823-10C>T VUS r.(=) p.(=)
?/. - c.823-4G>A VUS r.spl? p.?
?/. - c.839G>A VUS r.(?) p.(Gly280Asp)
+/. 6 c.844C>T pathogenic r.(?) p.(Gln282*)
?/. 6 c.878A>C VUS r.(?) p.(His293Pro)
+?/. - c.928G>A likely pathogenic r.(?) p.(Asp310Asn)
+?/. - c.938G>A likely pathogenic r.(?) p.(Gly313Asp)
?/. 6 c.947G>A VUS r.(?) p.(Gly316Glu)
+/. 6 c.985A>T pathogenic r.(?) p.(Lys329*)
-/. - c.1011+87A>G benign r.(=) p.(=)
+/. 6i c.1012-2A>G pathogenic r.spl p.?
-?/. - c.1021C>A likely benign r.(?) p.(Leu341Ile)
?/. 7 c.1024G>A VUS r.(?) p.(Gly342Arg)
+/. 7 c.1032C>G pathogenic r.(?) p.(Tyr344*)
+/. 7 c.1049A>G pathogenic r.(?) p.(Glu350Gly)
?/. - c.1063G>A VUS r.(?) p.(Ala355Thr)
?/. - c.1063G>A VUS r.(?) p.(Ala355Thr)
+/. 7 c.1068C>G pathogenic r.(?) p.(Tyr356*)
?/. 7 c.1069G>A VUS r.(?) p.(Val357Ile)
+/. 7 c.1079T>C pathogenic r.(?) p.(Val360Ala)
+/. 7 c.1085del pathogenic r.(?) p.(Leu362Argfs*26)
+/. 7 c.1096C>T pathogenic r.(?) p.(Leu366Phe)
+/. 7 c.1112C>T pathogenic r.(?) p.(Thr371Ile)
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