Transcript #00001855

Transcript name transcript variant 1
Gene name ABCA12 (ATP-binding cassette, sub-family A (ABC1), member 12)
Chromosome 2
Transcript - NCBI ID NM_173076.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775099.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

110 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 2 c.110dupT - r.(?) p.(Ile38Hisfs*27)
-/. - c.164-11300A>G benign r.(=) p.(=)
+/. - c.178C>T pathogenic r.(?) p.(Arg60*)
+/. 6 c.529delT - r.(?) p.(Ser177Glnfs*26)
+/. 6 c.596G>A - r.(?) p.(Trp199*)
+/. 6 c.682C>T - r.(?) p.(Gln228*)
+/. - c.859C>T pathogenic r.(?) p.(Arg287*)
+/. 7 c.859C>T - r.(?) p.(Arg287*)
+/. 7 c.859C>T - r.(?) p.(Arg287*)
+/. 7i_8i c.(872+1_873-1)_(985+1_986-1)del - r.(del) p.?
-/. 8 c.888G>A - r.(?) p.(=)
-/. - c.888G>A benign r.(=) p.(=)
-/. 8i c.985+85T>C - r.(=) p.(=)
+/. 9 c.1033A>C - r.(?) p.(Thr345Pro)
+/. 9 c.1060C>T - r.(?) p.(Gln354*)
+/. 10 c.1131C>G - r.(?) p.(Tyr377*)
+/. 10 c.1160G>A - r.(?) p.(Ser387Asn)
+/. 12 c.1300C>T - r.(?) p.(Arg434*)
+/. 15 c.1803G>A - r.(?) p.(Trp601*)
+?/. - c.1866del ACMG: 4 r.(?) p.(Cys622*)
-/. - c.1923G>C benign r.(=) p.(=)
+/. 16 c.2021_2022del - r.(?) p.(Lys674Argfs*49)
+/. 16 c.2025delG - r.(?) p.(Ile676Phefs*13)
+/. 16 c.2025delG - r.(?) p.(Ile676Phefs*13)
-/. - c.2124A>G benign r.(=) p.(=)
+/. 17 c.2140C>T - r.(?) p.(Arg714*)
+/. 17 c.2273dupT - r.(?) p.(Leu758Phefs*4)
-/. - c.2329T>A benign r.(?) p.(Ser777Thr)
-?/. - c.2538G>A likely benign r.(=) p.(=)
-/. - c.3033A>G benign r.(=) p.(=)
?/. - c.3180-6T>G VUS r.(=) p.(=)
+/. 22i_23i c.(3179+1_3180-1)_(3294+1_3295-1)del - r.(del) p.?
+/. 23 c.3270T>G - r.(?) p.(Tyr1090*)
+/. 23 c.3270T>G - r.(?) p.(Tyr1090*)
+/. 23i c.3295-2A>G - r.[3295_3303del; 3295_3464del] p.[Tyr1099_Lys1101del; Tyr1099Leufs*44]
+/. 23i c.3295-2A>G - r.spl p.?
+/. 24 c.3407G>A - r.(?) p.(Gly1136Asp)
+/. 24 c.3535G>A - r.(?) p.(Gly1179Arg)
+?/. - c.3666C>A ACMG: 4 r.(?) p.(Tyr1222*)
+/. 25 c.3673C>T - r.(?) p.(Arg1225*)
+/. 26 c.3704G>C - r.(?) p.(Trp1235Ser)
-/. - c.3726G>A benign r.(=) p.(=)
+/. 26 c.3746C>A - r.(?) p.(Ser1249*)
+/. 26 c.3746C>A - r.(?) p.(Ser1249*)
+/. 26i c.3829+1G>A - r.(?) p.?
+/. 27 c.3882G>A - r.(?) p.(Trp1294*)
+/. 27 c.3891G>A - r.(?) p.(Arg1297*)
+/. 27i_53i c.(3976+1_3977-1)_(*1_?)del - r.(del) p.?
+/. - c.4051del pathogenic r.(?) p.(Val1351Serfs*16)
-/. - c.4126T>C benign r.(=) p.(=)
+/. 28 c.4139A>G - r.(?) p.(Asn1380Ser)
+/. 28 c.4139A>G - r.(?) p.(Asn1380Ser)
+/. 28 c.4139A>G - r.(?) p.(Asn1380Ser)
+/. 28 c.4139A>G - r.(?) p.(Asn1380Ser)
+/. 28 c.4139A>G - r.(?) p.(Asn1380Ser)
+/. - c.4139A>G pathogenic r.(?) p.(Asn1380Ser)
+/. 28 c.4142G>A - r.(?) p.(Gly1381Glu)
+/. 28 c.4158_4160del - r.(?) p.(Thr1387del)
+/. 28 c.4158_4160del - r.(?) p.(Thr1387del)
-/. - c.4163+20T>C benign r.(=) p.(=)
+/. - c.4169_4173del pathogenic r.(?) p.(Met1390Asnfs*45)
-/. - c.4225A>G benign r.(?) p.(Ile1409Val)
+/. 29 c.4262delG - r.(?) p.(Gly1421Glufs*39)
+/. 30 c.4481T>C - r.(?) p.(Ile1494Thr)
+?/. - c.4538C>G likely pathogenic r.(?) p.(Ser1513Cys)
+/. 30 c.4541G>A - r.(?) p.(Arg1514His)
+/. 30 c.4541G>A - r.(?) p.(Arg1514His)
+/. 31 c.4615G>A - r.(?) p.(Glu1539Lys)
-/. - c.4941C>T benign r.(=) p.(=)
+/. 32 c.4951G>A - r.(?) p.(Gly1651Ser)
+/. 32 c.4951G>A - r.(?) p.(Glu1651Ser)
+/. 33 c.5005C>T - r.(?) p.(Gln1669*)
+/. 33 c.5012delA - r.(?) p.(Asn1671Ilefs*4)
+/. 33_33i c.5126_5128+1del - r.spl p.?
+/. 34 c.5231G>A - r.(?) p.(Trp1744*)
+/. 34 c.5231G>A - r.(?) p.(Trp1744*)
+/. 34i c.5381+3_5381+4del - r.(spl?) p.?
+/. 35 c.5393C>T - r.(?) p.(Pro1798Leu)
-/. - c.5617G>A benign r.(?) p.(Val1873Ile)
+/. 37 c.5641C>T - r.(?) p.(Arg1881*)
+/. 37 c.5690G>C - r.(spl?) p.?
+/. 39 c.5848C>T - r.(?) p.(Arg1950*)
+/. 39 c.5848C>T - r.(?) p.(Arg1950*)
+/. 40 c.5939C>A - r.(?) p.(Thr1980Lys)
+?/. - c.6091T>G likely pathogenic r.(?) p.(Trp2031Gly)
?/. - c.6091T>G VUS r.(?) p.(Trp2031Gly)
+/. 42 c.6161_6162del - r.(?) p.(Ala2054Aspfs*10)
+/. 42i c.6233+1G>T - r.(spl?) p.?
-/. - c.6306C>T benign r.(=) p.(=)
+/. - c.6440dup pathogenic r.(?) p.(Gln2149Thrfs*10)
+/. 44 c.6443_6445del - r.(?) p.(Pro2141del)
+/. 44 c.6481C>T - r.(?) p.(Gln2161*)
+/. - c.6610C>T pathogenic r.(?) p.(Arg2204*)
+/. 44 c.6610C>T - r.(?) p.(Arg2204*)
+/. 47 c.7093G>A - r.(?) p.(Asp2365Asn)
-?/. - c.7093G>A likely benign r.(?) p.(Asp2365Asn)
-/. - c.7105-17C>T benign r.(=) p.(=)
+/. - c.7323del pathogenic r.(?) p.(Val2442Serfs*22)
+/. 49 c.7323delC - r.(?) p.(Val2442Serfs*22)
+/. 49 c.7323delC - r.(?) p.(Val2442Serfs*22)
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