(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the STAT5B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering STAT5B transcript NM_012448.3.(upstream sequence) . . g.21 TTCTGTGGGTACATGTTATAG c.21 F C G Y M L X p.6 . . . . . . g.81 tgagcctggggacacacagctggggagggggcctggtccatgtacgtggcgctgccgccc c.*60 . . | 02. . . . g.450 ccggcatctgcagatgcgttcacaaac | tcagggaccacttgcttgatctgtggcttcacg c.*120 . | 03 . . . . g.5259 tatccatcaacagctttag | cagtagcagactcgcagggaactggtgtgtagtatttggag c.*180 . . . . . . g.5319 tatacttcatcttttggccgatcaggaaacacgtagataaggtaattcaagtctcccaag c.*240 . . . . . . g.5379 cggtcggctagggaccgaatggagaagtctctggtggtaaaaggcatcagattccaaaac c.*300 . | 04 . . . . . g.7881 attctttcct | gagaatcaaacttccaagcaatggtgatgccgccaatttctgagtcactg c.*360 . . . . . . g.7941 aatctcaggaggaaggtcccatctggcttgttaatgagtaggtcatgggcctgttgcttg c.*420 . . | 05 . . . . g.8102 tttacaaaccccaaaatggcc | ccatcattccaatgaggcttgagatgtttttttaacact c.*480 . . . . . | 06 . g.9648 tccatcacaccgtcaaaccattgccagaaagtgtaattccgtcctggtaaattctc | cctg c.*540 . . . . . . g.9708 ttgaactgggaccaggacacagacaggccactgtagtcctccaggtggctgctgctgttg c.*600 . . . . . . g.9768 ttgaacagtttctgcgccaggaacacgaggttctccttggtcaggccccggttgctctgc c.*660 . . . . . . g.9828 acttcggccttgaatttcatgttgagcgcctcacacagctgtggccacagcactttgtca c.*720 . . | 07 . . . . g.13711 ggcacggcaaatggcaccctgcc | aggctctgcaaaagcattgtcccagagaacagtggcc c.*780 . . . . . | 08 . g.14824 gtcgcattgttgtcctggctgccatgaacgatcaccaccactggcagggacagggt | cttg c.*840 . . . . . . g.14884 acttgaaaaaccagctcatttccaccaacactgaactgggattcaaacaggattgtaaat c.*900 . . . . . | 09 g.15038 ttttcttctgtcaccgactctgccccacgacggtctgacctcttaattcgtttcaggga | c c.*960 . . . . . . g.15098 atattcctgaagtgggcactaagggtgcctgtggcttggtggtactccatgacgcagcag c.*1020 . . | 10. . . . g.15844 ttgttcaagatctcgccactgtaatca | ttgcgggtgttctcgttcttgagcagagacttg c.*1080 . . . . . . g.15904 gcctgctgctcactgatgatggtggccttcacctggggggggttcatgtgcacgttcagc c.*1140 . . . . . . g.15964 ttcccgcccaccagcaggcgcacagtggctgcaaacttggtctgggtcttcaggacctga c.*1200 . . | 11. . . . g.16416 ggaggctgcttctcaatgatgaacgtg | ctggtcaccagggctgagataatgtccgtgatg c.*1260 . . . . . . g.16476 gtggcgttgacctcggccagcatctcctccactgggccggggatgggcagctgctggcag c.*1320 . . . . . . g.16536 aggtgctcagccctgcggatctgctgccggttctgccagatgatctcggccaacttctca c.*1380 | 12 . . . . . . g.17029 cac | caggactgtagcacgtccaggctgccctcggggggcccgccgttcccggccagctgc c.*1440 . . . . . . g.17089 tgccgccgcttccactggatcagctcgtcatccaggatgatggtctgctgcttccgcagc c.*1500 . . . | 13 . . . g.17397 agctgcagggtcttctggtgcttctcggccagctc | cacgcggtactgctgcagtgtctgt c.*1560 . . . . . . g.17457 gcctcacgctgcaaccaggcctccagagacacctgcttctgctggagggccgtctcccgg c.*1620 . . . . | 14 . . g.21056 ctcagacgctcctgggggctcagctgggccagcgggccaaactgag | cttggatcctcagg c.*1680 . . . . . . g.21116 ctctcctggtactggatgatgaagtactcctgagtctgctgcagcttttttaactcattc c.*1740 . . . . . . g.21176 tctgtgtcctgcgtgaccagtcgcagctcctcaaacgtctggttgatctggaggtgtttc c.*1800 . . . . | 15 . . g.22458 tgggacatggcatcagcaaggcttccagctggagagctacc | attgttggcttctcggacc c.*1860 . . . . . . g.22518 aacctctgttcattgtacaatatatggcggatgcagcggaccagctccatggggcagcgg c.*1920 . | 16 . . . . . g.25238 tcatacgtgtt | ctggagctgtgtggcatagtgccccagcttgatcttcagtaaaaaccca c.*1980 . . . . . . g.25298 tcttcccccacctggtgctctgccttcttctgcagctcctgcaccaggccctccaggagc c.*2040 . . . . | 17 . g.29672 tgggtggccttaatgttctcctgtggattatcaagatctactgagtcc | catgcttggctt c.*2100 . . . . . . g.29732 tcaatccactgggataaataatgccgcacctcaatgggaaaatgctggccatataacgct c.*2160 . . . . . . g.29792 tgcatctgatgaagggcttctccttggagctgctgagcttgtatccacacagccatggtt c.*2220 | 18 . . . . . . g.73962 tacaat | ctcgctcggcccctcgggcgcccgcggctgctccggcccagctgtctggcttgc c.*2280 . . . . . . g.74022 ccgcccgcccgctcgctccctccctcggccgggccgccgcgcggagttgcctgcgctggg c.*2340 . . . . | 19 . . g.74082 tccccgcccggggtgacggctccggccgccgactctcctcccgcc | g c.*2386 (downstream sequence)Legend:
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