All transcript variants in gene ABCA13

Information The variants shown are described using the NM_152701.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.2335A>C likely benign r.(?) p.(Lys779Gln) g.48311598A>C - ABCA13:c.2335A>C (K779Q) - ABCA13_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4118G>A likely benign r.(?) p.(Arg1373His) g.48313381G>A - ABCA13:c.4118G>A (R1373H) - ABCA13_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4498G>A likely benign r.(?) p.(Val1500Ile) g.48313761G>A - ABCA13:NM_152701.3:c.4498G>A - ABCA13_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.6817T>C likely benign r.(?) p.(Ser2273Pro) g.48316080T>C - ABCA13:NM_152701.3:c.6817T>C - ABCA13_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.8953C>A VUS r.(?) p.(Gln2985Lys) g.48327673C>A - ABCA13:c.8953C>A (Q2985K) - ABCA13_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.9962C>T VUS r.(?) p.(Thr3321Ile) g.48356856C>T - ABCA13:c.9962C>T (T3321I) - ABCA13_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln) g.48411772G>A g.48372175G>A hg18 48,382,318G>A - ABCA13_000001 controls; 0/1666 cases (841 SCZ, 484 BP, 331 MDD); conserved amino acid PubMed: Knight 2009 - - Germline - 1/951 - 0 - Johan den Dunnen
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln) g.48411772G>A g.48372175G>A hg18 48,382,318G>A - ABCA13_000001 - PubMed: Knight 2009 - - Germline - 0.0005 - 0 - Johan den Dunnen
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln) g.48411772G>A g.48372175G>A hg18 48,382,318G>A - ABCA13_000001 - PubMed: Knight 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. 33 c.10811G>A - r.(?) p.(Arg3604Gln) g.48411772G>A g.48372175G>A hg18 48,382,318G>A - ABCA13_000001 - PubMed: Knight 2009 - - Germline - 0.0003 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 - PubMed: Knight 2009 - - Germline - 0.0043 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 conserved amino acid PubMed: Knight 2009 - - Germline - 8/939 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 conserved amino acid PubMed: Knight 2009 - - Germline - 10/488 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 conserved amino acid PubMed: Knight 2009 - - Germline - 5/262 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 - PubMed: Knight 2009 - - Germline - 0.0085 - 0 - Johan den Dunnen
+?/. 33 c.10826A>C - r.(?) p.(His3609Pro) g.48411787A>C g.48372190A>C hg18 48,382,333A>C - ABCA13_000002 conserved amino acid PubMed: Knight 2009 - - Germline - 10/857 - 0 - Johan den Dunnen
-?/. 33 c.10830A>C - r.(?) p.(Pro3610=) g.48411791A>C g.48372194A>C hg18 48,382,337A>C - ABCA13_000003 not found in controls; synonymous PubMed: Knight 2009 - - Germline - 0.0096 - 0 - Johan den Dunnen
-?/. 33 c.10830A>T - r.(?) p.(Pro3610=) g.48411791A>T g.48372194A>T hg18 48,382,337A>T - ABCA13_000004 synonymous PubMed: Knight 2009 - - Germline - 0.0037 - 0 - Johan den Dunnen
-?/. 33 c.10830A>T - r.(?) p.(Pro3610=) g.48411791A>T g.48372194A>T hg18 48,382,337A>T - ABCA13_000004 synonymous PubMed: Knight 2009 - - Germline - 0.0048 - 0 - Johan den Dunnen
+/. 33 c.11112T>G - r.(?) p.(Ser3704Arg) g.48412073T>G g.48372476T>G hg18 48,382,619T>G - ABCA13_000005 0/1606 cases (851 SCZ, 496 BP, 259 MDD), 0/939 controls; conserved amino acid; miss./splice PubMed: Knight 2009 - - Unknown - - - 0 - Johan den Dunnen
+/. 33 c.11112T>G - r.(?) p.(Ser3704Arg) g.48412073T>G g.48372476T>G hg18 48,382,619T>G - ABCA13_000005 not found in controls; missense/splice variant PubMed: Knight 2009 - - Unknown - 0.0003 - 0 - Johan den Dunnen
-?/. 33i c.11134-126C>T - r.(?) p.(=) g.48413818C>T g.48374221C>T hg18 48,384,364C>T - ABCA13_000006 - PubMed: Knight 2009 - - Germline - 0.0160 - 0 - Johan den Dunnen
-?/. 33i c.11134-126C>T - r.(?) p.(=) g.48413818C>T g.48374221C>T hg18 48,384,364C>T - ABCA13_000006 - PubMed: Knight 2009 - - Germline - 0.0095 - 0 - Johan den Dunnen
-?/. 33i c.11134-16A>G - r.(?) p.(=) g.48413928A>G g.48374331A>G hg18 48,384,474A>G - ABCA13_000007 not found in controls PubMed: Knight 2009 - - Germline - 0.0045 - 0 - Johan den Dunnen
-?/. 34i c.11203+64T>C - r.(?) p.(=) g.48414077T>C g.48374480T>C hg18 48,384,623T>C - ABCA13_000008 - PubMed: Knight 2009 - - Germline - 0.0053 - 0 - Johan den Dunnen
-?/. 34i c.11203+64T>C - r.(?) p.(=) g.48414077T>C g.48374480T>C hg18 48,384,623T>C - ABCA13_000008 - PubMed: Knight 2009 - - Germline - 0.0048 - 0 - Johan den Dunnen
?/. - c.11443_11445del VUS r.(?) p.(Phe3817del) g.48427526_48427528del - ABCA13:NM_152701.3:c.11443_11445del - ABCA13_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 36i c.11473+54G>A - r.(?) p.(=) g.48427610G>A g.48388013G>A hg18 48,398,156G>A - ABCA13_000009 not analysed in controls PubMed: Knight 2009 - - Germline - 0.0523 - 0 - Johan den Dunnen
-?/. 36i c.11473+130G>C - r.(?) p.(=) g.48427686G>C g.48388089G>C hg18 48,398,232G>C - ABCA13_000010 not analysed in controls PubMed: Knight 2009 - - Germline - 0.0048 - 0 - Johan den Dunnen
-?/. 37 c.11583C>G - r.(?) p.(Leu3861=) g.48428746C>G g.48389149C>G hg18 48,399,292C>G - ABCA13_000011 not found in cases;synonymous PubMed: Knight 2009 - - Germline - 0.0052 - 0 - Johan den Dunnen
-?/. 37 c.11613C>T - r.(?) p.(Thr3871=) g.48428776C>T g.48389179C>T hg18 48,399,322T>C - ABCA13_000012 not found in cases PubMed: Knight 2009 - - Germline - 0.0052 - 0 - Johan den Dunnen
-?/. 38i c.11874-88C>T - r.(?) p.(=) g.48443192C>T g.48403595C>T hg18 48,413,738C>T - ABCA13_000013 not analysed in controls PubMed: Knight 2009 - - Germline - 0.0092 - 0 - Johan den Dunnen
-?/. 39i c.12071-20C>T - r.(?) p.(=) g.48450097C>T g.48410500C>T hg18 48,420,643C>T - ABCA13_000014 - PubMed: Knight 2009 - - Germline - 0.2067 - 0 - Johan den Dunnen
-?/. 39i c.12071-20C>T - r.(?) p.(=) g.48450097C>T g.48410500C>T hg18 48,420,643C>T - ABCA13_000014 - PubMed: Knight 2009 - - Germline - 0.1651 - 0 - Johan den Dunnen
+?/. 40 c.12091A>G - r.(?) p.(Thr4031Ala) g.48450137A>G g.48410540A>G hg18 48,420,683A>G - ABCA13_000015 0/1019 SCZ, 0/365 MDD, 0/2262 controls; conserved amino acid; on specific haplotype PubMed: Knight 2009 - - Germline - 3/678 - 0 - Johan den Dunnen
+?/. 40 c.12091A>G - r.(?) p.(Thr4031Ala) g.48450137A>G g.48410540A>G hg18 48,420,683A>G - ABCA13_000015 not found in controls PubMed: Knight 2009 - - Germline - 0.0009 - 0 - Johan den Dunnen
-?/. 40 c.12139C>G - r.(?) p.(Leu4047Val) g.48450185C>G g.48410588C>G hg18 48,420,731C>G - ABCA13_000016 - PubMed: Knight 2009 - - Germline - 0.0104 - 0 - Johan den Dunnen
-?/. 40 c.12139C>G - r.(?) p.(Leu4047Val) g.48450185C>G g.48410588C>G hg18 48,420,731C>G - ABCA13_000016 - PubMed: Knight 2009 - - Germline - 0.0169 - 0 - Johan den Dunnen
-?/. 40i c.12228+14C>G - r.(?) p.(=) g.48450288C>G g.48410691C>G hg18 48,420,834C>G - ABCA13_000017 - PubMed: Knight 2009 - - Germline - 0.2067 - 0 - Johan den Dunnen
-?/. 40i c.12228+14C>G - r.(?) p.(=) g.48450288C>G g.48410691C>G hg18 48,420,834C>G - ABCA13_000017 - PubMed: Knight 2009 - - Germline - 0.1651 - 0 - Johan den Dunnen
-?/. 43 c.12780T>C - r.(?) p.(Pro4260=) g.48494848T>C g.48455251T>C hg18 48,465,394T>C - ABCA13_000018 not found in cases;synonymous PubMed: Knight 2009 - - Germline - 0.0052 - 0 - Johan den Dunnen
+?/. 43 c.12785A>G - r.(?) p.(His4262Arg) g.48494853A>G g.48455256A>G hg18 48,465,399A>G - ABCA13_000019 0/1717 cases (837 SCZ, 562 BP, 318 MDD), 0/980 controls; conserved amino acid PubMed: Knight 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. 43 c.12785A>G - r.(?) p.(His4262Arg) g.48494853A>G g.48455256A>G hg18 48,465,399A>G - ABCA13_000019 not found in controls PubMed: Knight 2009 - - Germline - 0.0003 - 0 - Johan den Dunnen
-?/. - c.12792G>T likely benign r.(?) p.(Gln4264His) g.48494860G>T - ABCA13:NM_152701.3:c.12792G>T - ABCA13_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 50 c.13360C>T - r.(?) p.(Arg4454Cys) g.48547481C>T g.48507885C>T hg18 48,518,027C>T - ABCA13_000020 - PubMed: Knight 2009 - - Germline - 0.0156 - 0 - Johan den Dunnen
-?/. 50 c.13360C>T - r.(?) p.(Arg4454Cys) g.48547481C>T g.48507885C>T hg18 48,518,027C>T - ABCA13_000020 - PubMed: Knight 2009 - - Germline - 0.0142 - 0 - Johan den Dunnen
-?/. 50 c.13390C>A - r.(?) p.(Leu4464Met) g.48547511C>A g.48507915C>A hg18 48,518,057C>A - ABCA13_000021 - PubMed: Knight 2009 - - Germline - 0.0208 - 0 - Johan den Dunnen
-?/. 50 c.13390C>A - r.(?) p.(Leu4464Met) g.48547511C>A g.48507915C>A hg18 48,518,057C>A - ABCA13_000021 - PubMed: Knight 2009 - - Germline - 0.0095 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 - PubMed: Knight 2009 - - Germline - 0.0014 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 3/938 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 8/482 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 1/265 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 - PubMed: Knight 2009 - - Germline - 0.0056 - 0 - Johan den Dunnen
+?/. 52 c.13648A>G - r.(?) p.(Ala4550Thr) g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 9/861 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 - PubMed: Knight 2009 - - Germline - 0.0019 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 - PubMed: Knight 2009 - - Germline - 0.0019 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 conserved amino acid PubMed: Knight 2009 - - Germline - 4/971 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 conserved amino acid PubMed: Knight 2009 - - Germline - 7/622 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 conserved amino acid PubMed: Knight 2009 - - Germline - 4/350 - 0 - Johan den Dunnen
?/. 52 c.13768C>T - r.(?) p.(Arg4590Trp) g.48556448C>T g.48516852C>T hg18 48,526,994C>T - ABCA13_000023 conserved amino acid PubMed: Knight 2009 - - Germline - 6/874 - 0 - Johan den Dunnen
-?/. 52i c.13797+89C>G - r.(?) p.(=) g.48556566C>G g.48516970C>G hg18 48,527,112C>G - ABCA13_000024 - PubMed: Knight 2009 - - Germline - 0.0161 - 0 - Johan den Dunnen
-?/. 52i c.13797+89C>G - r.(?) p.(=) g.48556566C>G g.48516970C>G hg18 48,527,112C>G - ABCA13_000024 - PubMed: Knight 2009 - - Germline - 0.0286 - 0 - Johan den Dunnen
-?/. 53 c.13942C>G - r.(?) p.(Pro4648Ala) g.48559781C>G g.48520185C>G hg18 48,530,327C>G - ABCA13_000025 not found in cases PubMed: Knight 2009 - - Germline - 0.0004 - 0 - Johan den Dunnen
-?/. 53 c.13942C>G - r.(?) p.(Pro4648Ala) g.48559781C>G g.48520185C>G hg18 48,530,327C>G - ABCA13_000025 0/1488 cases (869 SCZ, 619 BP), 0/959 controls; conserved amino acid PubMed: Knight 2009 - - Germline - - - 0 - Johan den Dunnen
-?/. 54 c.14121A>G - r.(?) p.(Arg4707=) g.48563913A>G g.48524317A>G hg18 48,534,459A>G - ABCA13_000026 synonymous PubMed: Knight 2009 - - Germline - 0.0526 - 0 - Johan den Dunnen
-?/. 54 c.14121A>G - r.(?) p.(Arg4707=) g.48563913A>G g.48524317A>G hg18 48,534,459A>G - ABCA13_000026 synonymous PubMed: Knight 2009 - - Germline - 0.0500 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 - PubMed: Knight 2009 - - Unknown - 0.001 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 conserved amino acid PubMed: Knight 2009 - - Unknown - 5/2270 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 conserved amino acid PubMed: Knight 2009 - - Unknown - 5/680 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 conserved amino acid PubMed: Knight 2009 - - Unknown - 1/374 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 - PubMed: Knight 2009 - - Unknown - 0.0025 - 0 - Johan den Dunnen
+?/. 54 c.14182C>T - r.(?) p.(Arg4728*) g.48563974C>T g.48524378C>T hg18 48,534,520C>T - ABCA13_000027 conserved amino acid PubMed: Knight 2009 - - Unknown - 4/1004 - 0 - Johan den Dunnen
-?/. 55i c.14354+57C>T - r.(?) p.(=) g.48567998C>T g.48528402C>T hg18 48,538,544C>T - ABCA13_000028 not found in cases PubMed: Knight 2009 - - Germline - 0.0153 - 0 - Johan den Dunnen
-?/. 55i c.14354+58C>T - r.(?) p.(=) g.48567999C>T g.48528403C>T hg18 48,538,545C>T - ABCA13_000029 not found in cases PubMed: Knight 2009 - - Germline - 0.0052 - 0 - Johan den Dunnen
-?/. 57 c.14521A>G - r.(?) p.(Ile4841Val) g.48626765A>G g.48587169A>G hg18 48,597,311A>G - ABCA13_000030 not found in controls PubMed: Knight 2009 - - Germline - 0.0040 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 - PubMed: Knight 2009 - - Germline - 0.0031 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 conserved amino acid PubMed: Knight 2009 - - Germline - 6/1025 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 conserved amino acid PubMed: Knight 2009 - - Germline - 5/619 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 conserved amino acid PubMed: Knight 2009 - - Germline - 2/336 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 - PubMed: Knight 2009 - - Germline - 0.0050 - 0 - Johan den Dunnen
+?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys) g.48626771C>T g.48587175C>T hg18 48,597,317C>T - ABCA13_000031 conserved amino acid PubMed: Knight 2009 - - Germline - 12/815 - 0 - Johan den Dunnen
-/. 57i c.14641-11C>A - r.(?) p.(=) g.48634295C>A g.48594699C>A hg18 48,604,841C>A - ABCA13_000032 - PubMed: Knight 2009 - - Germline - 0.0789 - 0 - Johan den Dunnen
-/. 57i c.14641-11C>A - r.(?) p.(=) g.48634295C>A g.48594699C>A hg18 48,604,841C>A - ABCA13_000032 - PubMed: Knight 2009 - - Germline - 0.0519 - 0 - Johan den Dunnen
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