Transcript #00000207

Transcript name ATP-binding cassette, sub-family A (ABC1), member 1
Gene name ABCA1 (ATP-binding cassette, sub-family A (ABC1), member 1)
Chromosome 9
Transcript - NCBI ID NM_005502.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005493.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

637 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-92-362A>G benign r.(=) p.(=)
-/. - c.-92-293G>A benign r.(=) p.(=)
-/. - c.-92-216T>C benign r.(=) p.(=)
-/. - c.-76dup benign r.(?) p.(=)
-/. - c.-35_-18del benign r.(?) p.(=)
-/. - c.-18G>C benign r.(?) p.(=)
-/. - c.45C>T benign r.(?) p.(=)
-?/. - c.63A>C likely benign r.(?) p.(Gln21His)
-/. - c.66+9G>T benign r.(=) p.(=)
-?/. - c.66+9G>T likely benign r.(=) p.(=)
-/. - c.66+144G>A benign r.(=) p.(=)
-/. - c.66+156C>T benign r.(=) p.(=)
-/. - c.66+384G>A benign r.(=) p.(=)
-/. - c.67-469A>G benign r.(=) p.(=)
-/. - c.67-50T>C benign r.(=) p.(=)
./. 3 c.92G>T - r.(?) p.(Trp31Leu)
?/. - c.94C>A VUS r.(?) p.(Pro32Thr)
-?/. - c.99A>G likely benign r.(?) p.(=)
?/. - c.103A>G VUS r.(?) p.(Ile35Val)
-/. - c.160+171A>G benign r.(=) p.(=)
-/. - c.160+209A>G benign r.(=) p.(=)
-/. - c.161-371G>A benign r.(=) p.(=)
-/. - c.161-272T>C benign r.(=) p.(=)
-/. - c.161-228C>T benign r.(=) p.(=)
-?/. - c.161-170G>A likely benign r.(=) p.(=)
+?/. - c.188C>G likely pathogenic r.(?) p.(Ser63Cys)
+?/. - c.207G>A likely pathogenic r.(?) p.(Trp69*)
?/. - c.248G>A VUS r.(?) p.(Arg83His)
?/. - c.254C>T VUS r.(?) p.(Pro85Leu)
./. 4 c.254C>T - r.(?) p.(Pro85Leu)
./. 4 c.254C>T - r.(?) p.(Pro85Leu)
-?/. - c.255G>A likely benign r.(?) p.(=)
+?/. - c.302+6T>C likely pathogenic r.(=) p.(=)
-/. - c.302+419G>A benign r.(=) p.(=)
-/. - c.302+448A>G benign r.(=) p.(=)
-/. - c.303-236A>G benign r.(=) p.(=)
./. 5 c.362G>C - r.(?) p.(Ser121Thr)
./. 5 c.400C>G - r.(?) p.(Gln134Glu)
?/. - c.421A>G VUS r.(?) p.(Asn141Asp)
-/. - c.421+240G>A benign r.(=) p.(=)
-/. - c.422-308A>G benign r.(=) p.(=)
-/. - c.422-302A>G benign r.(=) p.(=)
-/. - c.422-255_422-250dup benign r.(=) p.(=)
-/. - c.422-251_422-250del benign r.(=) p.(=)
-?/. - c.422-251_422-250dup likely benign r.(=) p.(=)
-/. - c.422-128G>A benign r.(=) p.(=)
-/. - c.422-43del benign r.(=) p.(=)
-/. - c.422-43dup benign r.(=) p.(=)
-?/. - c.422-16C>T likely benign r.(=) p.(=)
-/. - c.422-14C>G benign r.(=) p.(=)
-/. - c.422-12A>G benign r.(=) p.(=)
-?/. - c.446T>G likely benign r.(?) p.(Val149Gly)
./. 6 c.467G>T - r.(?) p.(Gly156Val)
-?/. - c.467G>T likely benign r.(?) p.(Gly156Val)
-/. - c.474G>A benign r.(?) p.(=)
./. 6 c.497A>G - r.(?) p.(Lys166Arg)
-/. - c.543+210A>C benign r.(=) p.(=)
-/. - c.543+334G>A benign r.(=) p.(=)
-/. - c.543+390C>A benign r.(=) p.(=)
-/. - c.544-161T>G benign r.(=) p.(=)
-/. - c.634T>A benign r.(?) p.(Ser212Thr)
-/. - c.651A>G benign r.(?) p.(=)
-/. - c.656G>A benign r.(?) p.(Arg219Lys)
?/. - c.671C>T VUS r.(?) p.(Ala224Val)
-?/. - c.688C>T likely benign r.(?) p.(Arg230Cys)
+?/. - c.689G>A likely pathogenic r.(?) p.(Arg230His)
-?/. - c.715A>G likely benign r.(?) p.(Ile239Val)
-/. - c.720+6T>C benign r.(=) p.(=)
-?/. - c.720+6T>C likely benign r.(=) p.(=)
-/. - c.720+12T>C benign r.(=) p.(=)
-?/. - c.720+345del likely benign r.(=) p.(=)
-/. - c.720+416G>A benign r.(=) p.(=)
-/. - c.720+471C>T benign r.(=) p.(=)
./. 8 c.743C>T - r.(?) p.(Pro248Leu)
./. 8 c.749C>T - r.(?) p.(Pro250Leu)
./. 8 c.749C>T - r.(?) p.(Pro250Leu)
-?/. - c.749C>T likely benign r.(?) p.(Pro250Leu)
-?/. - c.754A>G likely benign r.(?) p.(Lys252Glu)
-?/. - c.782T>C likely benign r.(?) p.(Leu261Ser)
-/. - c.813+17C>T benign r.(=) p.(=)
-/. - c.814-408_814-407del benign r.(=) p.(=)
-/. - c.814-374G>A benign r.(=) p.(=)
-?/. - c.814-358G>A likely benign r.(=) p.(=)
-?/. - c.814-285G>A likely benign r.(=) p.(=)
-/. - c.814-243C>T benign r.(=) p.(=)
-/. - c.814-14dup benign r.(=) p.(=)
-?/. - c.814-6C>T likely benign r.(=) p.(=)
?/. - c.820A>C VUS r.(?) p.(Ser274Arg)
-/. - c.886T>A benign r.(?) p.(Ser296Thr)
-?/. - c.927C>T likely benign r.(?) p.(=)
-/. - c.936C>T benign r.(?) p.(=)
-/. - c.948G>A benign r.(?) p.(=)
./. 9 c.1028C>T - r.(?) p.(Ala343Val)
?/. - c.1028C>T VUS r.(?) p.(Ala343Val)
?/. - c.1052C>A VUS r.(?) p.(Thr351Lys)
-/. - c.1054+218A>C benign r.(=) p.(=)
-/. - c.1055-345T>C benign r.(=) p.(=)
-/. - c.1055-320T>C benign r.(=) p.(=)
-/. - c.1055-7T>C benign r.(=) p.(=)
./. 10 c.1106G>A - r.(?) p.(Arg369His)
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