(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the RNF168 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering RNF168 transcript NM_152617.3.(upstream sequence) . . . . g.48 CTTAGATACGGAGTCTTTCCTGACTTCTTGTACAGCTTCAGAGTGTGA c.48 L R Y G V F P D F L Y S F R V X p.15 . . . | 02 . . . g.8565 ggctgacccaaactgagatttcggtgtcaaatac | ttctgaatatctccagtgtttctttg c.*60 . . . . . . g.8625 tttgttcttacttttcttttcagacttgggtgtaactggatcagattttctggaattcaa c.*120 . . . | 03 . . . g.12192 gggagaagccgagatacttccctcacagaaattgtt | aatatcaatgcttagctttcttgc c.*180 . . . . . . g.12252 cagttcctcatcacttttcagttgttcttccatcgctcttcgccttttttctgcctgtct c.*240 . . . . . . g.12312 tttttcctcttcttcctcctctgccaacaacctctgtatgtattcttcactggctttgtt c.*300 . . . | 04 . . . g.13400 ttcttcttcctcgctggcccgtcgctctgccgccac | cttgcttatttcctcttcatattc c.*360 . . . . . | 05 . g.27649 tcttctcagttccccaggtttactgagcagacgaactggctgatagtcatcag | ccacttc c.*420 . . . . . . g.27709 ctctgattcttggccagacgctctaagcttgcactccctgggatagtgtttttgaattat c.*480 . . . . . . g.27769 cgtccacagttccacgttgacgagagaatttcttcgggtatggtaccgagtccacgacga c.*540 . . . . . . g.27829 tacccggcggcgacagaagggacagcataaactcgccttttcgacggtcgactggaagca c.*600 . . . . . . g.27889 cggtttacacagcgtgtggttacacgggagggtgacgggctccacgaggatttccatgca c.*660 . . . . . . g.27949 gatcccgcactggcactcggacagcgaggggatggcgtctttgggtagagccatttcaat c.*720 . . . . . . g.28009 atgttagtaaagccgactaaacaacgacacctgcacgaaaaagaatcctattttcggcca c.*780 . . . . . . g.28069 accacagagagagcaaaagcagttttgtgtttcagtattatgcccagaagcgtatcagaa c.*840 . . . . . . g.28129 ttcggagaacaggagcatccaacacgtcttgaagcaaaaaggcgctctcagggtcaggca c.*900 . . . . . . g.28189 aacaggaataccccggagggcggcgtctttgtccattttcaaggcaaacgtcccgccagc c.*960 . . . . . . g.28249 aaataaatgcaggttttcgtcggaggagcctggctgctccgcggcatgaacaccgcggct c.*1020 . . . . . . g.28309 gcggctcccggggcagcgaggggaacgcgccaagtcctctcctcccctcacccggaaagg c.*1080 . . . . . . g.28369 atgctccgctcagctcggggcagccgggccccgggacgcggctccgggaggaagcccggg c.*1140 . . . . . . g.28429 ctccggctgcagcataacttccgctttaccgctgctgcgggggagacgcgcgactcccgt c.*1200 . . . . . . g.28489 gttcacctttcgggcgcctggcgcagtttcccagagctccgcgcccccgtccctcctacg c.*1260 . . . . | 06 . g.28549 cagccagaaaccctattcgttgcggcagcgcagcagccaccggacaagc | t c.*1310 (downstream sequence)Legend:
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