Transcript #00001868

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 2
Gene name ABCC2 (ATP-binding cassette, sub-family C (CFTR/MRP), member 2)
Chromosome 10
Transcript - NCBI ID NM_000392.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000383.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.116A>T benign r.(?) p.(Tyr39Phe)
-?/. - c.159A>G likely benign r.(?) p.(=)
-?/. - c.159A>G likely benign r.(?) p.(=)
-?/. - c.842G>A likely benign r.(?) p.(Ser281Asn)
-/. - c.1249G>A benign r.(?) p.(Val417Ile)
-?/. - c.1860T>A likely benign r.(?) p.(Asp620Glu)
+?/. 19 c.1967+1G>A likely pathogenic (recessive) r.spl p.?
?/. - c.2369C>T VUS r.(?) p.(Ala790Val)
-?/. - c.2440-11T>C - r.= p.=
+?/. - c.2443C>T likely pathogenic (recessive) r.(?) p.(Arg815*)
?/. 20 c.2714G>T - r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T - r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T - r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T - r.(?) p.(Arg905Ile)
-?/. - c.3107T>C likely benign r.(?) p.(Ile1036Thr)
-?/. - c.3114G>A likely benign r.(?) p.(=)
./. - c.3196C>T VUS r.(?) p.(Arg1066*)
+?/. - c.3196C>T VUS r.(?) p.(Arg1066*)
?/. - c.3236G>A VUS r.(?) p.(Arg1079Gln)
+/. - c.3258+1G>A pathogenic r.spl? p.?
+/. 23i c.3258+1G>A - r.3104_3258del p.Ile1036Tyrfs*6
?/. - c.3437G>C VUS r.(?) p.(Arg1146Pro)
-?/. - c.3648C>A likely benign r.(?) p.(Asn1216Lys)
-/. - c.3972C>T benign r.(?) p.(=)
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