(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the LIG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering LIG4 transcript NM_002312.3.
(upstream sequence)
g.8101
ctggc c.-241
. . . . . . g.8161
ctcgggcaagctccgttacctctgtgaaccagagaatcccagctgtaaaatgagatcttg c.-181
. . . . . . g.8221
atggtttcctgcggggttgccatgagaaagaatcaacatgtacgcaggtaaagcaggcaa c.-121
. . . . . . g.8281
tacagttccagggagtcaaaaacgggagaaatcgtcccacgacctggggcttgggtctag c.-61
. . . . . . g.8341
atgaagagcacagcatcaggaggccaggcttctaatgcggcgcagtctacagcgctgtgg c.-1
| 02 . . . . . . g.8401
| T c.1
| ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? p.0
(downstream sequence)
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