Unique variants in gene ABCB5

Information The variants shown are described using the NM_001163941.1 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-215C>G - - g.20615644C>G - ABCB5_000001 rs2106562 0.7353 113 193 Admin
./. 1 - c.-22+593C>T r.(=) p.(=) g.20616430C>T - ABCB5_000002 rs7809674 0.3088 139 35 Admin
./. 1 - c.54-1040C>T - - g.20625517C>T - ABCB5_000003 rs11766004 0.9338 25 304 Admin
./. 1 - c.108C>G - - g.20626611C>G - ABCB5_000004 rs17143187 0.9426 31 304 Admin
./. 1 - c.108+99A>C - - g.20626710A>C - ABCB5_000005 rs6947067 0.0324 12 5 Admin
./. 1 - c.108+577C>T - - g.20627188C>T - ABCB5_000006 rs12154301 0.1147 65 6 Admin
./. 1 - c.108+790C>T - - g.20627401C>T - ABCB5_000007 rs17143189 0.0324 16 3 Admin
./. 1 - c.259+171G>T - - g.20629009G>T - ABCB5_000008 rs11543624 0.9118 42 288 Admin
./. 1 - c.260-100G>T - - g.20631959G>T - ABCB5_000009 rs10248261 0.0206 6 4 Admin
./. 1 - c.314+1261C>T - - g.20633374C>T - ABCB5_000010 rs13247791 0.0941 60 2 Admin
./. 1 - c.314+1506C>T - - g.20633619C>T - ABCB5_000011 rs6964702 0.3294 125 49 Admin
./. 1 - c.315-3522A>G r.(=) p.(=) g.20639662A>G - ABCB5_000012 rs2188594 0.7853 108 212 Admin
./. 1 - c.315-2801A>G - - g.20640383A>G - ABCB5_000013 rs1004060 0.2000 92 22 Admin
./. 1 - c.315-2225C>T - - g.20640959C>T - ABCB5_000014 rs7793193 0.6985 138 168 Admin
./. 1 - c.315-1255A>T - - g.20641929A>T - ABCB5_000015 rs1004226 0.8838 73 263 Admin
./. 1 - c.678+191C>T - - g.20643823C>T - ABCB5_000016 rs12669250 0.9074 61 277 Admin
./. 1 - c.679-970A>C - - g.20644786A>C - ABCB5_000017 rs7786228 0.0897 35 13 Admin
./. 1 - c.783A>C - - g.20645860A>C - ABCB5_000018 rs2074000 0.9471 28 307 Admin
./. 1 - c.981+381C>T r.(=) p.(=) g.20646519C>T - ABCB5_000019 rs17143221 0.9691 13 322 Admin
./. 1 - c.1004C>T - - g.20647557C>T - ABCB5_000020 rs2893006 0.2147 113 16 Admin
./. 1 - c.1206+749C>T - - g.20648827C>T - ABCB5_000062 rs6974437 0.8721 47 272 Admin
./. 1 - c.1207-226G>T - - g.20649796G>T - ABCB5_000061 rs916737 0.8235 101 229 Admin
./. 1 - c.1207-151A>G r.(=) p.(=) g.20649871A>G - ABCB5_000060 rs916738 0.8044 105 220 Admin
./. 1 - c.1536+2395G>T - - g.20654018G>T - ABCB5_000055 rs2285562 0.1588 58 25 Admin
./. 1 - c.1537-2432A>T r.(=) p.(=) g.20656074A>T - ABCB5_000056 rs7796543 0.3765 147 54 Admin
./. 1 - c.1537-2396A>G - - g.20656110A>G - ABCB5_000057 rs7779761 0.3265 151 35 Admin
./. 1 - c.1707+3853C>T - - g.20662529C>T - ABCB5_000058 rs7792053 0.0618 20 11 Admin
./. 1 - c.1707+3901C>G - - g.20662577C>G - ABCB5_000059 rs7792341 0.2324 117 20 Admin
./. 1 - c.1708-1728A>C - - g.20679777A>C - ABCB5_000045 rs7795777 0.8544 76 252 Admin
./. 1 - c.1708-45A>G r.(=) p.(=) g.20681460A>G - ABCB5_000046 rs11764760 0.1559 93 6 Admin
./. 1 - c.2010+1161C>T - - g.20686997C>T - ABCB5_000047 rs17143258 0.2779 128 30 Admin
./. 1 - c.2010+1551C>T - - g.20687387C>T - ABCB5_000048 rs17143260 0.2000 57 39 Admin
./. 1 - c.2010+1868A>G r.(=) p.(=) g.20687704A>G - ABCB5_000049 rs7805806 0.1500 70 16 Admin
./. 1 - c.2010+3367C>G r.(=) p.(=) g.20689203C>G - ABCB5_000050 rs2190411 0.7147 136 174 Admin
./. 1 - c.2011-1454A>G - - g.20696953A>G - ABCB5_000051 rs17143272 0.1971 94 19 Admin
./. 1 - c.2011-1246A>G r.(=) p.(=) g.20697161A>G - ABCB5_000052 rs7793093 0.8618 66 259 Admin
./. 1 - c.2011-765C>G - - g.20697642C>G - ABCB5_000053 rs2024046 0.6618 156 146 Admin
./. 1 - c.2011-731C>T - - g.20697676C>T - ABCB5_000054 rs2024045 0.8765 78 258 Admin
./. 1 - c.2337+1909A>C r.(=) p.(=) g.20702044A>C - ABCB5_000021 rs10488578 0.7529 124 193 Admin
./. 1 - c.2421+2644G>T - - g.20707451G>T - ABCB5_000022 rs10488577 0.1456 89 5 Admin
./. 1 - c.2422-6098A>G - - g.20716918A>G - ABCB5_000023 rs6972085 0.3265 141 40 Admin
./. 1 - c.2422-5705C>G r.(=) p.(=) g.20717311C>G - ABCB5_000024 rs10230211 0.0250 11 3 Admin
./. 1 - c.2626-1033C>T - - g.20726007C>T - ABCB5_000025 rs4721939 0.2618 115 31 Admin
./. 1 - c.2742A>G r.(=) p.(=) g.20728330A>G - ABCB5_000026 rs17143304 0.9500 32 306 Admin
./. 1 - c.2868-5040A>C - - g.20733943A>C - ABCB5_000027 rs17219864 0.6853 155 155 Admin
./. 1 - c.2868-4612C>G - - g.20734371C>G - ABCB5_000028 rs6960186 0.6706 133 161 Admin
./. 1 - c.2868-4516A>C - - g.20734467A>C - ABCB5_000029 rs6959944 0.1235 62 11 Admin
./. 1 - c.2868-2316C>G - - g.20736667C>G - ABCB5_000030 rs17819195 0.7441 123 191 Admin
./. 1 - c.2868-784C>G - - g.20738199C>G - ABCB5_000031 rs10273704 0.8500 85 246 Admin
./. 1 - c.2868-696C>T r.(=) p.(=) g.20738287C>T - ABCB5_000032 rs10244045 0.1456 64 17 Admin
./. 1 - c.3025-407A>G - - g.20742470A>G - ABCB5_000033 rs10231520 0.6765 133 163 Admin
./. 1 - c.3223-722C>G - - g.20744510C>G - ABCB5_000034 rs6947306 0.1765 79 20 Admin
./. 1 - c.3223-318A>G - - g.20744914A>G - ABCB5_000035 rs10236887 0.8324 83 241 Admin
./. 1 - c.3223-179C>T - - g.20745053C>T - ABCB5_000036 rs10280418 0.8500 81 248 Admin
./. 1 - c.3429+1270A>G - - g.20746708A>G - ABCB5_000037 rs17143321 0.9691 13 322 Admin
./. 1 - c.3429+2211A>G r.(=) p.(=) g.20747649A>G - ABCB5_000038 rs6461517 0.7176 126 180 Admin
./. 1 - c.3429+2653A>T - - g.20748091A>T - ABCB5_000039 rs10263244 0.7309 127 184 Admin
./. 1 - c.3430-2142C>G - - g.20751218C>G - ABCB5_000040 rs16872609 0.0471 30 1 Admin
./. 1 - c.3430-1794A>G r.(=) p.(=) g.20751566A>G - ABCB5_000041 rs4721946 0.6544 143 150 Admin
./. 1 - c.3430-1183A>G - - g.20752177A>G - ABCB5_000042 rs10266329 0.2779 133 28 Admin
./. 1 - c.3430-986C>T - - g.20752374C>T - ABCB5_000043 rs2108258 0.9000 42 284 Admin
./. 1 - c.3430-877A>T r.(=) p.(=) g.20752483A>T - ABCB5_000044 rs2528800 0.3588 150 47 Admin
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