Unique variants in gene L1CAM

Information The variants shown are described using the NM_024003.3 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-4925G>C r.(=) p.(=) g.153146216C>G - L1CAM_000016 rs5945360 0.023 12 516 6342 - - Admin
./. 1 - c.-4917A>G r.(=) p.(=) g.153146208T>C - L1CAM_000015 - 0.001938 1 516 6355 1 - Admin
./. 1 - c.-4823C>T r.(=) p.(=) g.153146114G>A - L1CAM_000014 rs186908002 0.003876 2 516 3613 - - Admin
./. 1 - c.28C>T r.(?) p.(Pro10Ser) g.153141264G>A - L1CAM_000013 rs144605615 0.001961 1 510 2375 - - Admin
./. 1 - c.76+190G>C r.(=) p.(=) g.153141026C>G - L1CAM_000012 rs111740820 0.012 6 504 1405 - - Admin
./. 1 - c.76+194C>A r.(=) p.(=) g.153141022G>T - L1CAM_000011 rs112639341 0.001984 1 504 1332 - - Admin
./. 1 - c.76+225G>A r.(=) p.(=) g.153140991C>T - L1CAM_000010 rs188830982 0.002165 1 462 966 - - Admin
./. 1 - c.77-132C>A r.(=) p.(=) g.153138829G>T - L1CAM_000009 rs73627232 0.007813 4 512 2922 - - Admin
./. 1 - c.92-21C>T r.(=) p.(=) g.153138173G>A - L1CAM_000008 rs201548966 0.007752 4 516 7847 - - Admin
./. 1 - c.197+17G>A r.(=) p.(=) g.153138030C>T - L1CAM_000007 rs5987174 0.00969 5 516 7101 - - Admin
./. 1 - c.197+47C>T r.(=) p.(=) g.153138000G>A - L1CAM_000006 rs201193840 0.001938 1 516 5669 - - Admin
./. 1 - c.400+45G>A r.(=) p.(=) g.153137562C>T - L1CAM_000005 rs184304949 0.003876 2 516 4036 - - Admin
./. 1 - c.400+55G>A r.(=) p.(=) g.153137552C>T - L1CAM_000004 rs143000476 0.003891 2 514 3617 - - Admin
./. 1 - c.649A>C r.(=) p.(=) g.153136290T>G - L1CAM_000003 rs201204893 0.001938 1 516 9002 - - Admin
./. 1 - c.720G>A r.(=) p.(=) g.153135929C>T - L1CAM_000002 rs35151382 0.007752 4 516 7751 - - Admin
./. 1 - c.807-61G>C r.(=) p.(=) g.153135756C>G - L1CAM_000001 rs149290876 0.021 11 514 3007 - - Admin
./. 1 - c.855C>T r.(=) p.(=) g.153135647G>A - L1CAM_000043 rs1042512 0.021 11 516 6466 - - Admin
./. 1 - c.992-59G>A r.(=) p.(=) g.153135448C>T - L1CAM_000042 rs150150448 0.003876 2 516 7967 - - Admin
./. 1 - c.992-40G>A r.(=) p.(=) g.153135429C>T - L1CAM_000041 rs200748370 0.001938 1 516 8114 - - Admin
./. 1 - c.992-32C>T r.(=) p.(=) g.153135421G>A - L1CAM_000040 rs191412165 0.001938 1 516 8090 - - Admin
./. 1 - c.1002C>T r.(=) p.(=) g.153135379G>A - L1CAM_000039 rs73640833 0.003876 2 516 8397 - - Admin
./. 1 - c.1050C>T r.(=) p.(=) g.153135331G>A - L1CAM_000038 rs182851917 0.001938 1 516 8667 - - Admin
./. 1 - c.1123+40C>T r.(=) p.(=) g.153135218G>A - L1CAM_000037 - 0.001938 1 516 7870 1 - Admin
./. 1 - c.1268-10C>T r.(=) p.(=) g.153134417G>A - L1CAM_000036 rs112841948 0.021 11 516 5999 - - Admin
./. 1 - c.1670G>C r.(?) p.(Gly557Ala) g.153133790C>G - L1CAM_000035 rs781845582 0.003876 2 516 9520 - - Admin
./. 1 - c.1704-18_1704-15del r.(=) p.(=) g.153133592_153133595del - L1CAM_000034 rs140240430 0.001938 1 516 8599 - - Admin
./. 1 - c.1704-14C>T r.(=) p.(=) g.153133591G>A - L1CAM_000033 rs140240430 - - - - - - Admin
./. 1 - c.1774G>A r.(?) p.(Val592Met) g.153133507C>T - L1CAM_000032 rs181210798 0.001938 1 516 8599 - - Admin
./. 1 - c.1939+98C>T r.(=) p.(=) g.153133157G>A - L1CAM_000031 rs55666951 0.007752 4 516 2670 - - Admin
./. 1 - c.2091C>T r.(=) p.(=) g.153132857G>A - L1CAM_000030 rs147917724 0.001938 1 516 6180 - - Admin
./. 1 - c.2209-6C>T r.(=) p.(=) g.153132332G>A - L1CAM_000029 rs7885771 0.035 18 514 3543 - - Admin
./. 1 - c.2307C>T r.(=) p.(=) g.153132228G>A - L1CAM_000028 rs5987173 0.007752 4 516 8977 - - Admin
./. 1 - c.2498_2499insACCTCGCGCTCCACGCGCTCGCGGATCTCGCCGAGCAACGCGGTCCATGGCA r.(?) p.(Trp833*) g.153131207_153131208insTGCCATGGACCGCGTTGCTCGGCGAGATCCGCGAGCGCGTGGAGCGCGAGGT - L1CAM_000027 - - - - - - - Admin
./. 1 - c.2548-37C>A r.(=) p.(=) g.153130992G>T - L1CAM_000026 rs148702216 0.003891 2 514 5188 - - Admin
./. 1 - c.2872C>G r.(?) p.(Leu958Val) g.153130543G>C - L1CAM_000025 rs35902890 0.003876 2 516 9696 - - Admin
./. 1 - c.3047-27T>C r.(=) p.(=) g.153130186A>G - L1CAM_000024 - 0.001938 1 516 9442 1 - Admin
./. 1 - c.3238C>T r.(=) p.(=) g.153129861G>A - L1CAM_000023 - 0.003876 2 516 8878 - 1 Admin
./. 1 - c.3440A>G r.(?) p.(Lys1147Arg) g.153129355T>C - L1CAM_000022 - 0.001938 1 516 9230 1 - Admin
./. 1 - c.3457+15C>T r.(=) p.(=) g.153129323G>A - L1CAM_000021 - 0.003876 2 516 8948 - 1 Admin
./. 1 - c.3457+53C>T r.(=) p.(=) g.153129285G>A - L1CAM_000020 rs137915897 0.025 13 516 7965 - - Admin
./. 1 - c.3458-34C>T r.(=) p.(=) g.153129038G>A - L1CAM_000019 rs7052999 0.033 17 516 3868 - - Admin
./. 1 - c.3458-33G>A r.(=) p.(=) g.153129037C>T - L1CAM_000018 rs200585451 0.001938 1 516 3986 - - Admin
./. 1 - c.3678T>C r.(=) p.(=) g.153128202A>G - L1CAM_000017 rs200610909 0.001938 1 516 8999 - - Admin
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