(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the MAGT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering MAGT1 transcript NM_032121.5.(upstream sequence) . g.12 CTGTATGGGTAG c.12 L Y G X p.3 . . . . . . g.72 ccatgatatttagatctaaaaatagagagcatccaactgaagaataatacaacaagtcca c.*60 . | 02 . . . . g.10482 ataccagccacacacatta | tctttcgctttccaatatccatgtcagaggtagcagcttca c.*120 . . . | 03 . . . g.23122 cataaaagcaccattcctaaggtaactccaccat | taaacagaagaacaatgtgtgtttca c.*180 . . . | 04 . . g.24718 gctacaaactgggcttgactgcttccatggatataatt | cacatgtcccgtgtggggattc c.*240 . . . . . . g.24778 ttatgggcatatggtggtcctcttatatggttccacatttgaccagatgtcatagcaagc c.*300 | 05 . . . . . g.25980 acaaaaca | caaagctgcaaaagcccatccagttttattaaagagaaattccatattactt c.*360 . . . . . . g.26040 cttcgaagatacacaagtccaccaataacagccaaaagcaatcccaacataaggggacca c.*420 . . | 06 . . . g.26583 gcataatttgggggtctaatcactctaat | attgacatcagttctgtcggcgatccaccgg c.*480 . . . . . . g.26643 gcaatctgctcagctgaaaaaccccgcacctgtaactcatatgtatcaccccgtttgggt c.*540 . . . . . | 07 . g.40013 ttcccttttgcaggaaagttgatgaaagttggagctgaattcatgtttag | catctgaaat c.*600 . . . . . . g.40073 acatcagagccttcatcaaaatccaccatggcaaaaaatatcctgttggtgaatgcactg c.*660 . . . . | 08 . g.44635 gagtatcgccaggagtttgccaggatctggaattcttcatcagcttgc | ttgcaaacgaca c.*720 . . . . . . g.44695 cactgtctatgcagttggagagcagtgaacatgacgataacggagtaatttctcggtggg c.*780 . . . . . . g.44755 gctttcacaaggcgacggaacttgtctccattcattcttattacaggtcttttgttagtc c.*840 . . . | 09 . . g.64526 cattccatcagctgactaaccttttcagataacaccat | ctccttctttctttgggcagag c.*900 . . . . . . g.64586 gctgagggaacgtcgcaaacgatgagcagcgccaccaccatggtcacagagacacaccaa c.*960 . . . . . . g.64646 aaccgccaacgcgctgccatgttcgctcctctcccttctataagtgaaactttgctccgg c.*1020 . . . . . . g.64706 ctaggtctgagggtggggcgtgagaacaggcaaatcggccccttgcctttcctcattggt c.*1080 . . . . . | 10 g.64766 ccagctcagccctgccgggagacccctcacattacgtcacagcgcgctggcgctacac | g c.*1139 (downstream sequence)Legend:
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