(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ZBTB24 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering ZBTB24 transcript NM_014797.2.
(upstream sequence)
. . g.24
CGATGGATTCTGATGTGGGTCTGA c.24
R W I L M W V X p.7
. . . . . | 02 g.7748
agagaactctttgctgtgaaagatttgccacagatttcacaagtaaatggcttctcac | ct c.*60
. . . . . . g.7808
gtgtgtgttcgcagatgtttctttagctgagacacatccatgaatttgcgatggcagtct c.*120
. . | 03 . . . . g.8560
ttgcattccggtaatgagtggc | ctgtatgaactcggtaatggctctttagctgtctgttc c.*180
. . . . | 04 . . g.9124
tggctgaaatattttccgcattgatcacaggtaaaagacttctgtc | ctgagtgcaggctc c.*240
. . . . . . g.9184
atgtgctccagcagtgagtgcttggtggtcagagccttgctgcacacggtgcaggtgtac c.*300
. . . . . . g.9244
ggccgctcgcctgtgtgcatcctggtgtggacctgtagcgagtgcttctgggcaaagcct c.*360
. . . | 05 . . . g.13448
tttccacactcattacatttgaaaggtcgctccc | ctgtgtggctcctctggtggattgct c.*420
. . . . . . g.13508
aaaaagtgattgtacttaaagaccttgccacagtctttacagcgggcctcagggcctcca c.*480
. . . . . . g.13568
gggcgctttctccttccacagatcctcttggctgaaccatggtcctcttgatccccaaca c.*540
. . . . . . g.13628
agtttgtaatctttaagtttgacggatctccaaatcctccgcttgctgtatcgactctgg c.*600
. . . . . . g.13688
cttgcctggccatcctcggtcttgggatcatagttctcatctttttcaactggcatttcc c.*660
. . . . . . g.13748
tcctctctacttggctcacaagtaggctccgattcttccttttcttttgctgcaatttgc c.*720
. . . . . . g.13808
tcattcagtacaccactgtctcctttaaccacaaagttttgtctattctgaactgaattg c.*780
. . . . . . g.13868
ttcactcttaactgtatttcttcctctgcagccagttctgatttctcctcctgcaatgta c.*840
. . . . . . g.13928
ttgactttttttggtcttccccgtttccgctttggaggatcgtttttcttattagagata c.*900
. . . . . . g.13988
acaaccactggggcaccagcagtgttcaaagttgttggctttggggagctatgattattt c.*960
. . . . . . g.14048
tggaagtctgtgtaagcctttaccaggtcatagacttttaagaactgagcagtagccagg c.*1020
. . . . . . g.14108
atttgttctgtacttttctcactggcatggagataacctgtgtagataaattccagcagg c.*1080
. . . . . . g.14168
ataccaaaggtgtctgcaaccatgccttccagcatataaatggattggccgatttccccc c.*1140
. . . . . . g.14228
tcttctgcaaacatcattgagaagtattcactactggcagcaagtaaggctttgtgggcc c.*1200
. . . . . . g.14288
cggaaatgtacattctccacgattaaagtaatgtcacagaggaagcctttcttcctctga c.*1260
. . . . . . g.14348
tcctcaaaactggccagcacagtgtcactgtgagcgtctgagtgtacaacaagctgccca c.*1320
. . . . . | 06 . g.15451
gaaggctctggcgatgtttctgccattttcttcagaagccactaagggttaaat | ccggcg c.*1380
. . . . . . g.15511
gcctggcgggagacccacgccggggcccgctggccctccgctccgccccgcccgcctctg c.*1440
. . . . . . g.15571
gggcttctgcgccgcaccggtttctgctcctgcgccgccgccgcagccacagccacagcc c.*1500
. | 07 . . . . . g.15631
aacccggaagcgcg | t c.*1515
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center