(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)
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