(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TNFRSF13B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering TNFRSF13B transcript NM_012452.2.(upstream sequence) . . . . . . g.60 CCTGGGAAGACTTGGCCGGACTTTGACGGGGCCTTGAGCGGGGCTGGCAGGAGCAGGGAT c.60 P G K T W P D F D G A L S G A G R S R D p.20 . g.75 CCCCCCTCTTCTTGA c.75 P P S S X p.24 . . . . . . g.135 ggaagcaggccaccgccaccaggaagcagcagaggacggcacacaggcagagccccagcg c.*60 . . . . . | 02 . g.8421 tgctgtagaccagggccacctgatctgcactcagcttcagccccgggagag | ctggacttg c.*120 . . . . . . g.8481 cttctgagcctctgtgctccaatccttggtaccttcccgagttgtctgaattgttttcaa c.*180 . . . . . . g.8541 cttctccactccgctgtctcctgagctctggtggaaggttcactgggctcctgagcttgt c.*240 . . . . . . g.8601 tctcacagaagtatgcacattgcttagggtgctgtccacagatggaggcacagctgatgc c.*300 . . . . . | 03. g.12123 agtccctcaggagatggtcatagaacttgccttgctccttgcggcagctgagtgacc | tgc c.*360 . . . . . . g.12183 agaaggctgcacaggtgcgctggctctgatggttgcaaatggttttgcaggacatgcagg c.*420 . . . . . . g.12243 tacccagcagaggatcccagtactgctcttcggggcaggatctcatagccacccccgtcc c.*480 . | 04 . . . . . g.31734 acaggccctgtggaa | agcgctcctcctggtccacacggctccggccacctcgcctgctcc c.*540 . . | 05 . . . g.31794 ggcccaggccactcattactcaggatgct | g c.*570 (downstream sequence)Legend:
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