Transcript #00001856

Transcript name ATP-binding cassette, sub-family A (ABC1), member 13
Gene name ABCA13 (ATP-binding cassette, sub-family A (ABC1), member 13)
Chromosome 7
Transcript - NCBI ID NM_152701.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689914.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

84 entries on 1 page. Showing entries 1 - 84.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.1554G>A - - -
-?/. - c.2335A>C likely benign r.(?) p.(Lys779Gln)
-?/. - c.4118G>A likely benign r.(?) p.(Arg1373His)
-?/. - c.4498G>A likely benign r.(?) p.(Val1500Ile)
-?/. - c.6817T>C likely benign r.(?) p.(Ser2273Pro)
?/. - c.8953C>A VUS r.(?) p.(Gln2985Lys)
?/. - c.9962C>T VUS r.(?) p.(Thr3321Ile)
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln)
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln)
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln)
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro)
-?/. 33 c.10830A>C - r.(?) p.(Pro3610=)
-?/. 33 c.10830A>T - r.(?) p.(Pro3610=)
-?/. 33 c.10830A>T - r.(?) p.(Pro3610=)
+/. 33 c.11112T>G - r.(?) p.(Ser3704Arg)
+/. 33 c.11112T>G - r.(?) p.(Ser3704Arg)
-?/. 33i c.11134-126C>T - r.(?) p.(=)
-?/. 33i c.11134-126C>T - r.(?) p.(=)
-?/. 33i c.11134-16A>G - r.(?) p.(=)
-?/. 34i c.11203+64T>C - r.(?) p.(=)
-?/. 34i c.11203+64T>C - r.(?) p.(=)
?/. - c.11443_11445del VUS r.(?) p.(Phe3817del)
-?/. 36i c.11473+54G>A - r.(?) p.(=)
-?/. 36i c.11473+130G>C - r.(?) p.(=)
-?/. 37 c.11583C>G - r.(?) p.(Leu3861=)
-?/. 37 c.11613C>T - r.(?) p.(Thr3871=)
-?/. 38i c.11874-88C>T - r.(?) p.(=)
-?/. 39i c.12071-20C>T - r.(?) p.(=)
-?/. 39i c.12071-20C>T - r.(?) p.(=)
+?/. 40 c.12091A>G - r.(?) p.(Thr4031Ala)
+?/. 40 c.12091A>G - r.(?) p.(Thr4031Ala)
-?/. 40 c.12139C>G - r.(?) p.(Leu4047Val)
-?/. 40 c.12139C>G - r.(?) p.(Leu4047Val)
-?/. 40i c.12228+14C>G - r.(?) p.(=)
-?/. 40i c.12228+14C>G - r.(?) p.(=)
-?/. 43 c.12780T>C - r.(?) p.(Pro4260=)
+?/. 43 c.12785A>G - r.(?) p.(His4262Arg)
+?/. 43 c.12785A>G - r.(?) p.(His4262Arg)
-?/. - c.12792G>T likely benign r.(?) p.(Gln4264His)
-?/. 50 c.13360C>T - r.(?) p.(Arg4454Cys)
-?/. 50 c.13360C>T - r.(?) p.(Arg4454Cys)
-?/. 50 c.13390C>A - r.(?) p.(Leu4464Met)
-?/. 50 c.13390C>A - r.(?) p.(Leu4464Met)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp)
-?/. 52i c.13797+89C>G - r.(?) p.(=)
-?/. 52i c.13797+89C>G - r.(?) p.(=)
-?/. 53 c.13942C>G - r.(?) p.(Pro4648Ala)
-?/. 53 c.13942C>G - r.(?) p.(Pro4648Ala)
-?/. 54 c.14121A>G - r.(?) p.(Arg4707=)
-?/. 54 c.14121A>G - r.(?) p.(Arg4707=)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*)
-?/. 55i c.14354+57C>T - r.(?) p.(=)
-?/. 55i c.14354+58C>T - r.(?) p.(=)
-?/. 57 c.14521A>G - r.(?) p.(Ile4841Val)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)
-/. 57i c.14641-11C>A - r.(?) p.(=)
-/. 57i c.14641-11C>A - r.(?) p.(=)
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