Transcript #00001876 (NM_000352.3, ABCC8 gene)

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_39_ c.(?_-1)_(*1_)del r.0? p.0?
+/. _1_22i c.-216_2694+531del r.0? p.0?
+/. _1_22i c.-216_2694+531del r.0? p.0?
+/. _1_22i c.-216_2694+531del r.0? p.0?
+/. _1_6i c.(?_-1)_(1011+1_1012-1)del r.0? p.0?
-/. - c.9G>C r.(?) p.(Leu3=)
+/. 1 c.19G>T r.(?) p.(Gly7Cys)
+/. 1 c.25G>T r.(?) p.(Glu9*)
+/. 1 c.29del r.(?) p.(Asn10Thrfs*68)
?/. 1 c.40G>T r.(?) p.(Ala14Ser)
?/. 1 c.44A>T r.(?) p.(Tyr15Phe)
+/. 1 c.55C>T r.(?) p.(Gln19*)
+/. 1 c.74del r.(?) p.(Gly25Alafs*53)
+/. 1 c.78C>G r.(?) p.(Cys26Trp)
+/. 1 c.81_82insA r.(?) p.(Val28Serfs*61)
?/. - c.91C>T r.(?) p.(Leu31Phe)
-?/. - c.105G>A r.(?) p.(Pro35=)
?/. 1 c.121T>C r.(?) p.(Phe41Leu)
+/. 1 c.137T>C r.(?) p.(Ile46Thr)
+/. 1i c.148+1G>A r.spl p.?
+/. - c.(148+1_149-1)_(290+1_291-1)del r.? p.?
+/. 2 c.173T>A r.(?) p.(Val58Glu)
?/. 2 c.175C>A r.(?) p.(His59Asn)
+/. 2 c.195G>A r.(?) p.(Trp65*)
-/. - c.207T>C r.(?) p.(Pro69=)
-/. - c.207T>C r.(?) p.(Pro69=)
-/. - c.207T>C r.(?) p.(Pro69=)
+/. 2 c.221G>T r.(?) p.(Arg74Leu)
+/. 2 c.225_229del r.(?) p.(Trp75Cysfs*12)
-?/. - c.262G>A r.(?) p.(Glu88Lys)
?/. 3 c.291G>T r.(?) p.(Gly96=)
+/. - c.(290+1_291-1)_(822+1_823-1)del r.? p.?
-/. - c.330C>T r.(?) p.(Ala110=)
+?/. - c.331G>A r.(?) p.(Gly111Arg)
?/. 3 c.361G>A r.(?) p.(Val121Met)
?/. 3 c.362T>C r.(?) p.(Val121Ala)
?/. 3 c.380T>C r.(?) p.(Ile127Thr)
+/. 3 c.398C>G r.(?) p.(Pro133Arg)
?/. 3 c.410T>G r.(?) p.(Ile137Ser)
-/. - c.412+77G>A r.(=) p.(=)
+/. - c.(412+1_413-1)_(579+1_580-1)del r.? p.?
+/. 4 c.415del r.(?) p.(Leu139Cysfs*38)
-?/. - c.423G>A r.(?) p.(Val141=)
?/. - c.502C>T r.(?) p.(Arg168Cys)
+/. 4 c.522dup r.(?) p.(Leu175Alafs*97)
-/. - c.579+14C>T r.(=) p.(=)
-/. - c.579+14C>T r.(=) p.(=)
-/. - c.579+14C>T r.(=) p.(=)
?/. 4i c.580-16_580-14del r.spl? p.(=)
+/. 4i c.580-3C>G r.spl? p.?
+/. 4i c.580-2A>G r.spl p.?
?/. 5 c.581G>A r.(?) p.(Arg194Lys)
?/. 5 c.602C>T r.(?) p.(Pro201Leu)
+/. 5 c.617C>T r.(?) p.(Pro206Leu)
+/. 5 c.635A>G r.(?) p.(Asp212Gly)
+/. 5 c.636C>G r.(?) p.(Asp212Glu)
+?/. - c.638T>C r.(?) p.(Leu213Pro)
+/. - c.655C>T r.(?) p.(Gln219Ter)
+/. 5 c.674_675insCACGAAGTAGCA r.(?) p.(Ser226_Asp1580delinsThr)
+/. 5 c.689A>G r.(?) p.(Tyr230Cys)
+/. 5 c.704C>T r.(?) p.(Ala235Val)
?/. 5 c.718G>A r.(?) p.(Ala240Thr)
-?/. 5 c.747C>T r.(?) p.(=)
?/. - c.751G>A r.(?) p.(Gly251Arg)
+/. 5 c.761C>T r.(?) p.(Pro254Leu)
?/. 5 c.769A>C r.(?) p.(Met257Leu)
?/. 5 c.770T>C r.(?) p.(Met257Thr)
?/. 5 c.809T>G r.(?) p.(Phe270Cys)
-?/. - c.822+20C>T r.(=) p.(=)
?/. - c.823-10C>T r.(=) p.(=)
+/. - c.824G>A r.(?) p.(Arg275Gln)
?/. - c.839G>A r.(?) p.(Gly280Asp)
+/. 6 c.844C>T r.(?) p.(Gln282*)
?/. 6 c.878A>C r.(?) p.(His293Pro)
+?/. - c.928G>A r.(?) p.(Asp310Asn)
?/. 6 c.947G>A r.(?) p.(Gly316Glu)
+/. 6 c.985A>T r.(?) p.(Lys329*)
-/. - c.1011+87A>G r.(=) p.(=)
+/. 6i c.1012-2A>G r.spl p.?
?/. 7 c.1024G>A r.(?) p.(Gly342Arg)
+/. 7 c.1032C>G r.(?) p.(Tyr344*)
+/. 7 c.1049A>G r.(?) p.(Glu350Gly)
?/. - c.1063G>A r.(?) p.(Ala355Thr)
?/. - c.1063G>A r.(?) p.(Ala355Thr)
+/. 7 c.1068C>G r.(?) p.(Tyr356*)
?/. 7 c.1069G>A r.(?) p.(Val357Ile)
+/. 7 c.1079T>C r.(?) p.(Val360Ala)
+/. 7 c.1085del r.(?) p.(Leu362Argfs*26)
+/. 7 c.1096C>T r.(?) p.(Leu366Phe)
+/. 7 c.1112C>T r.(?) p.(Thr371Ile)
+/. 7 c.1120C>T r.(?) p.(Gln374*)
+/. 7 c.1138del r.(?) p.(Ala380Profs*8)
+/. 7 c.1150_1159del r.(?) p.(Gly384*)
?/. 8 c.1183A>T r.(?) p.(Ile395Phe)
?/. 8 c.1238C>G r.(?) p.(Thr413Ser)
?/. 8 c.1271A>G r.(?) p.(Asp424Gly)
+/. 8i c.1332+1G>A r.spl p.?
+/. 8i c.1332+3A>G r.spl? p.?
-?/. - c.1332+4del r.spl? p.?
-?/. - c.1332+4del r.spl? p.?
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