(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MRE11A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MRE11A transcript NM_005591.3.
(upstream sequence)
g.9
CTCACTTGA c.9
L T X p.2
. . . . . . g.69
ttcaaaatcaacccctttcgatacttgactctgggacatgattttgctggatgatgtgct c.*60
| 02. . . . . . g.5974
ggaccac | ctttgatctgtctttgaagtggtaggaaaaatgtcttcttccacatctgattc c.*120
. | 03 . . . . . g.7311
atctacctcaatcac | ctctgaataattcttagtagtgacatttcgggaaggctgctgtct c.*180
. | 04 . . . . . g.15945
tgtagatttaaagg | catctataatagacatatttctagatgctgacacagcagtctttga c.*240
. . . | 05 . . g.17330
gttcctgctacgggtagaagtctccagaccagtgtctg | ctcttcctctttgagaccctcc c.*300
. . . . . . g.17390
tctcgatgctgaattctgccctcttccacctcttcgacctcttcctcggcctcttccttt c.*360
. . . . . . g.17450
gttggttgctgctgagatgctatcatcagagtcattagccatctgttctgctaaatctat c.*420
. . . . . . g.17510
actcataaggtcatcagcactaaaggcagaagcagactcctctgactgagatctgagtgc c.*480
. | 06 . . . . g.26407
tctggccctggtcatagc | ctcacggacttcatcatcttcttcattagtatttttttgtct c.*540
. . | 07 . . . . g.29536
ggtttctctgaaacgacgtac | ctcctcatcgattttgtcttcgagggcatcaatatgacg c.*600
. . . . . . g.29596
ttctttaagaaatcgctgtgttttttccaactggtatttcactaattcctcaatggcatc c.*660
. . . . . . g.29656
tttctcctccttgtccacaaattcttgtactgcttcacccatccctctttctgttagcag c.*720
. | 08 . . . . . g.31070
tgagagctgcacatt | cttctctgcggtttgaaagtactgttttacaagatcttctaccct c.*780
. . . . . | 09 . g.34206
taaagttgttccttctgaaggctttgtgataagtttcccaaagttgatctcttctc | ctgt c.*840
. . . . . . g.34266
tttttccttttgttctctatgcctgaaaaaatggataatgtcttttggattagctacccg c.*900
. . . . . . g.34326
atccacaaatttctggctaaagcgaagaacactgaaaggttcaaaacctccactatagtc c.*960
| 10 . . . . . . g.37959
cac | tcgcagtcgtacaagaggcttctctggctggtgagaattacccagacgttcccgttc c.*1020
. . | 11 . . . . g.40596
agcattttcaagcatttcttcaat | cttctccaaacagaagctttgtatggcttgggttac c.*1080
. . . . . . g.40656
tttaggattatctgggttaaaaatgtctggatgattagctagaacaatatcctccatgaa c.*1140
. . . . . . g.40716
aaactgccgcactgtgtgaagaggaattttatgcatattcatcttcctccctttaatacg c.*1200
. | 12 . . . . . g.41707
cagcaaaccaacatgt | ttctttacagcttctcctggggaaagagaagtaaccactgagct c.*1260
. . . . . . g.41767
tccaggttgtgagatataaaacagctgttgttcatttttggttggagctattttacactc c.*1320
. . . . . . g.41827
atgttcatggccccagataacaagatcaatgaagtcatccaaaaattgttctggaatgaa c.*1380
. . | 13 . . . . g.46416
gttagtacttccatgtttactc | ctgttctgatgaatcacaaataagttaaaccaagagtt c.*1440
. . . . . . g.46476
ctcatcttcctttggtctcaacattgttacttttttattgacaaacattcgatagagcct c.*1500
. | 14. . . . . g.48867
ttcatctggaatggatc | ctaaaccatatagcgcaatctttgtgcttcctttttgaagcaa c.*1560
. . . . . . g.48927
aaccggactaatgtctatcttctccacagacattgaacgtccaaagtgatttacaaatcc c.*1620
. . . | 15 . . g.49784
agcacaacttaaaatgtccaaggcacaaagtgcatctgc | ccctgtgggatcgtcatgatt c.*1680
. . . . . . g.49844
gccatgaatactaaacactggaattgaaatgttgaggttgccatcttgatagttcaccca c.*1740
| 16. . . . . . g.56066
tggaaac | ttactaaaaccaaagttgactgactgatcactgagaatttcaaactggacagg c.*1800
. . . . . . g.56126
ccgatcacccatacaatattttcttaataactcgaggcaggtatgtaatgttttccttga c.*1860
. . . . | 17 . g.60934
gggcttattttcatgaaaaagatcaccacctaacaaaataaaatccac | ttcattttcctg c.*1920
. . . . . . g.60994
ggcaagtcttaaaatttcatcgagtgttacaaacgtatcatttcctctgactgcatcttt c.*1980
. . . . . . g.61054
ctccataaatccaagatgaatatctgttgcaactaatattttaaatgtgttttcatcatc c.*2040
| 18 . . . . . . g.62930
a | agtgcatctgcagtactcatttttatggtcagtcaagctcctctgggaccaggttcttc c.*2100
. . . . . . g.62990
tccaagaacccctgggtactgtactcaaatgtcagaaaatgcactcgattccaaattcta c.*2160
| 19 . . . . . . g.63934
gaaatt | ctctgagaacccgcagggccgtaaacctgaattccgcgggagagaacggcgtcc c.*2220
. . . | 20 . . . g.63994
gtttctctcgcgacacttcatggataacgt | a c.*2251
(downstream sequence)
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