Full data view for gene ABCD1

Information The variants shown are described using the NM_000033.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-59C>T r.(=) p.(=) Unknown g.152990663C>T - ABCD1_000001 rs4148030 0.076 39 510 2110 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.38A>C r.(?) p.(Asn13Thr) Unknown g.152990759A>C - ABCD1_000002 rs183021839 0.003876 2 516 4396 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.471A>G r.(=) p.(=) Unknown g.152991192A>G - ABCD1_000003 rs151148684 0.001938 1 516 9538 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.478C>T r.(=) p.(=) Unknown g.152991199C>T - ABCD1_000004 - 0.001938 1 516 9540 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.549C>T r.(=) p.(=) Unknown g.152991270C>T - ABCD1_000005 - 0.003876 2 516 9509 0 1 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.600C>T r.(=) p.(=) Unknown g.152991321C>T - ABCD1_000006 rs782724538 0.001938 1 516 9577 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.696G>T r.(=) p.(=) Unknown g.152991417G>T - ABCD1_000007 rs147595334 0.003876 2 516 9447 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.852G>A r.(=) p.(=) Unknown g.152991573G>A - ABCD1_000008 - 0.001938 1 516 8735 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.900+68G>A r.(=) p.(=) Unknown g.152991689G>A - ABCD1_000009 - 0.001938 1 516 3445 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.901-16C>T r.(=) p.(=) Unknown g.152994671C>T - ABCD1_000010 rs41302176 0.021 11 516 4905 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.901-10C>T r.(=) p.(=) Unknown g.152994677C>T - ABCD1_000020 rs2269365 0.001938 1 516 5324 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.986T>C r.(?) p.(Met329Thr) Unknown g.152994772T>C - ABCD1_000021 rs782512863 0.001938 1 516 8767 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1081+92C>T r.(=) p.(=) Unknown g.152994959C>T - ABCD1_000022 rs189914607 0.00969 5 516 7360 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1081+127C>T r.(=) p.(=) Unknown g.152994994C>T - ABCD1_000023 rs181163716 0.001938 1 516 7383 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1081+196C>T r.(=) p.(=) Unknown g.152995063C>T - ABCD1_000024 rs781783070 0.001938 1 516 5265 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1082-759C>T r.(=) p.(=) Unknown g.153000807C>T - ABCD1_000025 - 0.001938 1 516 3249 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1082-31del r.(=) p.(=) Unknown g.153001535del - ABCD1_000026 rs782484368 0.001938 1 516 3249 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1393+31C>T r.(=) p.(=) Unknown g.153001998C>T - ABCD1_000027 rs73633774 0.012 6 516 4051 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1393+32G>A r.(=) p.(=) Unknown g.153001999G>A - ABCD1_000028 rs369915770 0.001938 1 516 3920 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1488+30G>A r.(=) p.(=) Unknown g.153002735G>A - ABCD1_000029 rs781918062 0.001938 1 516 9175 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1488+134C>T r.(=) p.(=) Unknown g.153002839C>T - ABCD1_000030 rs142236904 0.029 15 516 7345 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1489-48C>T r.(=) p.(=) Unknown g.153005498C>T - ABCD1_000043 rs782063625 0.001938 1 516 3693 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1489-24C>G r.(=) p.(=) Unknown g.153005522C>G - ABCD1_000031 rs149185761 0.001938 1 516 5520 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1548G>A r.(=) p.(=) Unknown g.153005605G>A - ABCD1_000032 rs41314153 0.083 43 516 9349 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1634+12C>T r.(=) p.(=) Unknown g.153005703C>T - ABCD1_000033 rs369538219 0.001938 1 516 8793 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1634+58C>T r.(=) p.(=) Unknown g.153005749C>T - ABCD1_000034 rs7059198 0.005814 3 516 7677 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1634+61C>T r.(=) p.(=) Unknown g.153005752C>T - ABCD1_000035 rs190868914 0.001938 1 516 7459 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1634+91C>T r.(=) p.(=) Unknown g.153005782C>T - ABCD1_000036 rs145245018 0.003876 2 516 5931 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1634+153G>A r.(=) p.(=) Unknown g.153005844G>A - ABCD1_000037 rs142496200 0.019 10 516 3411 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1899C>T r.(=) p.(=) Unknown g.153008708C>T - ABCD1_000038 rs202125585 0.003937 2 508 2062 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1901C>T r.(?) p.(Ala634Val) Unknown g.153008710C>T - ABCD1_000039 rs200347377 0.003922 2 510 2032 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1903G>A r.(?) p.(Val635Met) Unknown g.153008712G>A - ABCD1_000040 rs201427153 0.003937 2 508 2017 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1914C>T r.(=) p.(=) Unknown g.153008723C>T - ABCD1_000041 rs199723613 0.003937 2 508 1891 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1922G>T r.(?) p.(Gly641Val) Unknown g.153008731G>T - ABCD1_000042 rs200460000 0.003937 2 508 1819 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1992-32C>T r.(=) p.(=) Unknown g.153008911C>T - ABCD1_000011 rs4898368 0.491 158 322 548 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2019C>T r.(=) p.(=) Unknown g.153008970C>T - ABCD1_000012 rs76637913 0.028 12 424 612 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2066G>A r.(?) p.(Arg689His) Unknown g.153009017G>A - ABCD1_000013 rs781952886 0.002119 1 472 813 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2076G>A r.(=) p.(=) Unknown g.153009027G>A - ABCD1_000014 - 0.002049 1 488 922 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2079G>A r.(=) p.(=) Unknown g.153009030G>A - ABCD1_000015 rs781935761 0.002049 1 488 960 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2112G>A r.(=) p.(=) Unknown g.153009063G>A - ABCD1_000016 rs372309740 0.003984 2 502 1361 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*8G>C r.(=) p.(=) Unknown g.153009197G>C - ABCD1_000017 rs2229539 0.722 371 514 3744 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*114A>G r.(=) p.(=) Unknown g.153009303A>G - ABCD1_000018 - 0.001953 1 512 1839 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*115A>G r.(=) p.(=) Unknown g.153009304A>G - ABCD1_000019 - 0.001961 1 510 1828 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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