Full data view for gene A1BG

Information The variants shown are described using the NM_130786.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.34+33G>A r.(=) p.(=) Unknown g.58864737C>T - A1BG_000036 rs747919949 0.001938 1 516 7953 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.35-15G>T r.(=) p.(=) Unknown g.58864708C>A - A1BG_000035 rs202021429 0.001938 1 516 8597 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.144G>A r.(=) p.(=) Unknown g.58864490C>T - A1BG_000033 rs556867940 0.001938 1 516 10325 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.155A>G r.(?) p.(His52Arg) Unknown g.58864479T>C - A1BG_000032 rs893184 0.905 467 516 12680 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.158T>C r.(?) p.(Leu53Pro) Unknown g.58864476A>G - A1BG_000031 rs145851378 0.001938 1 516 9582 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.248T>A r.(?) p.(Leu83Gln) Unknown g.58864386A>T - A1BG_000030 rs747803919 0.001938 1 516 8886 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.280C>T r.(?) p.(Arg94Cys) Unknown g.58864354G>A - A1BG_000029 rs550094143 0.001938 1 516 8164 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.340+81G>A r.(=) p.(=) Unknown g.58864213C>T - A1BG_000028 rs1165793912 0.001938 1 516 4329 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.360G>A r.(?) p.(Trp120*) Unknown g.58863902C>T - A1BG_000027 - 0.001938 1 516 7166 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.614-109_614-108insA r.(=) p.(=) Unknown g.58863161_58863162insT - A1BG_000026 rs10164322 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.614-108G>A r.(=) p.(=) Unknown g.58863161C>T - A1BG_000025 rs10164322 0.017 8 470 2245 3 14 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.888G>A r.(=) p.(=) Unknown g.58862779C>T - A1BG_000024 rs147717500 0.001938 1 516 8178 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.911-68G>A r.(=) p.(=) Unknown g.58862085C>T - A1BG_000023 rs78109376 0.008032 4 498 1292 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1107C>T r.(=) p.(=) Unknown g.58861821G>A - A1BG_000022 rs147512196 0.001938 1 516 9226 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1120T>C r.(?) p.(Cys374Arg) Unknown g.58861808A>G - A1BG_000021 rs145144275 0.001938 1 516 9142 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1184A>G r.(?) p.(His395Arg) Unknown g.58861744T>C - A1BG_000020 rs2241788 0.014 7 516 7535 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-72T>C r.(=) p.(=) Unknown g.58859078A>G - A1BG_000019 rs62116376 0.004202 2 476 1575 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-72_1193-49del r.(=) p.(=) Unknown g.58859055_58859078del - A1BG_000034 rs746134225 0.234 98 418 2158 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-61G>C r.(=) p.(=) Unknown g.58859067C>G - A1BG_000018 rs879884404 0.013 6 462 1775 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-60del r.(=) p.(=) Unknown g.58859066del - A1BG_000016 rs1313991211 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-60T>C r.(=) p.(=) Unknown g.58859066A>G - A1BG_000017 rs1265959 0.806 350 434 1817 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-58T>C r.(=) p.(=) Unknown g.58859064A>G - A1BG_000015 rs62116375 0.026 11 420 1876 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-52del r.(=) p.(=) Unknown g.58859058del - A1BG_000014 rs746134225 0.234 98 418 2158 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-50_1193-49insCGCGGCCTGGG r.(=) p.(=) Unknown g.58859055_58859056insCCCAGGCCGCG - A1BG_000013 rs144085420 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-46T>C r.(=) p.(=) Unknown g.58859052A>G - A1BG_000012 rs773174332 0.234 98 418 2158 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-38G>T r.(=) p.(=) Unknown g.58859044C>A - A1BG_000011 rs1321439713 0.004132 2 484 2285 0 1 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-38_1193-37insCGCGGCCTGGG r.(=) p.(=) Unknown g.58859043_58859044insCCCAGGCCGCG - A1BG_000010 rs747071974 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1193-38_1193-37insCGCGGCCTGGGGCGTGGCCTGGG r.(=) p.(=) Unknown g.58859043_58859044insCCCAGGCCACGCCCCAGGCCGCG - A1BG_000009 rs747071974 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1480+43T>C r.(=) p.(=) Unknown g.58858676A>G - A1BG_000008 rs1265957 0.93 480 516 9928 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1480+63A>G r.(=) p.(=) Unknown g.58858656T>C - A1BG_000007 rs573823581 0.005814 3 516 7369 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1480+104del r.(=) p.(=) Unknown g.58858615del - A1BG_000006 rs11345647 0.001938 1 516 4367 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1481-94G>C r.(=) p.(=) Unknown g.58858489C>G - A1BG_000005 rs181368785 0.001938 1 516 4367 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1481-10C>G r.(=) p.(=) Unknown g.58858405G>C - A1BG_000004 rs376202936 0.001938 1 516 8256 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*70C>G r.(=) p.(=) Unknown g.58858318G>C - A1BG_000003 rs533320081 0.001938 1 516 7039 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*156del r.(=) p.(=) Unknown g.58858232del - A1BG_000002 rs3214663 0.002336 1 428 3430 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*170G>A r.(=) p.(=) Unknown g.58858218C>T - A1BG_000001 rs143231321 0.002336 1 428 3430 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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