(used for variant description)
(last modified August 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003001.3 in the SDHC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012767.1, covering SDHC transcript NM_003001.3.
(upstream sequence)
. . . g.5030
gcgtcacttccgtccagaccggaacccaag c.-1
. . | 02 . . . . g.14278
ATGGCTGCGCTGTTGCTGAG | ACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCT c.60
M A A L L L R | H V G R H C L R A H F S P p.20
. | 03. . . . . g.19063
CAGCTCTGTATCAGAAA | TGCTGTTCCTTTGGGAACCACGGCCAAAGAAGAGATGGAGCGG c.120
Q L C I R N | A V P L G T T A K E E M E R p.40
. . . . . | 04 g.31219
TTCTGGAATAAGAATATAGGTTCAAACCGTCCTCTGTCTCCCCACATTACTATCTACAG | T c.180
F W N K N I G S N R P L S P H I T I Y S | p.60
. . . . . . g.31279
TGGTCTCTTCCCATGGCGATGTCCATCTGCCACCGTGGCACTGGTATTGCTTTGAGTGCA c.240
W S L P M A M S I C H R G T G I A L S A p.80
| 05 . . . . . . g.47360
G | GGGTCTCTCTTTTTGGCATGTCGGCCCTGTTACTCCCTGGGAACTTTGAGTCTTATTTG c.300
G | V S L F G M S A L L L P G N F E S Y L p.100
. . . . . . g.47420
GAACTTGTGAAGTCCCTGTGTCTGGGGCCAGCACTGATCCACACAGCTAAGTTTGCACTT c.360
E L V K S L C L G P A L I H T A K F A L p.120
. . . . | 06 . . g.52968
GTCTTCCCTCTCATGTATCATACCTGGAATGGGATCCGACACTTG | ATGTGGGACCTAGGA c.420
V F P L M Y H T W N G I R H L | M W D L G p.140
. . . . . . g.53028
AAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTG c.480
K G L K I P Q L Y Q S G V V V L V L T V p.160
. . . g.53058
TTGTCCTCTATGGGGCTGGCAGCCATGTGA c.510
L S S M G L A A M X p.169
. . . . . . g.53118
agaaaggaggctcccagcatcatcttcctacacattattacattcacccatctttctgtt c.*60
. . . . . . g.53178
tgtcattcttatctccagcctgggaaaagttctccttatttgtttagatccttttgtatt c.*120
. . . . . . g.53238
ttcagatctccttggagcagtagagtacctggtagaccataatagtggaaaagggtctag c.*180
. . . . . . g.53298
ttttccccttgtttctaaagatgaggtggctgcaaaaactccccttttttgcccacagct c.*240
. . . . . . g.53358
tgcctactctcggcctagaagcagttattctctctccatattgggctttgatttgtgctg c.*300
. . . . . . g.53418
agggtcagcttttggctccttcttcctgagacagtggaaacaatgccagctctgtggctt c.*360
. . . . . . g.53478
ctgccctggggatgggccgggttggggggtgggttggtgaggctttgggtgccactgcct c.*420
. . . . . . g.53538
gtgggttgctggcttaaaggacaattctcttcattggtgagagcccaggccattaacacc c.*480
. . . . . . g.53598
tacacagtgttattgaaagaagagaggtgggggtggaggggaattagtctgtcccagcta c.*540
. . . . . . g.53658
gagggagataaagagggctagttagttcttggagcagctgcttttgaggagaaaatatat c.*600
. . . . . . g.53718
agctttggacacgaggaagatctagaaaattatcattgaacatattaatggttatttctt c.*660
. . . . . . g.53778
tttcttggatttccagaaaagcctcttaattttatgctttctcatcgaagtaatgtaccc c.*720
. . . . . . g.53838
tttttttctgaaactgaattaaatactcattttatctttgactctccttgaaatctagag c.*780
. . . . . . g.53898
aaaccaagaaaatggctgttgggaaggaaccaatttcctcctcttccctcgggtctcagg c.*840
. . . . . . g.53958
catttacatcctccctctccccgcaatctgacctttaccaggagggaaacagttctccta c.*900
. . . . . . g.54018
catctcatcattggaaaagttttcagggaatcagatagaacttagccagagatttaaata c.*960
. . . . . . g.54078
tcacagaaaagcctcagagaaggaaggagaaaaagaaaagaagtgacgcatgtagagtgc c.*1020
. . . . . . g.54138
ttttgggttataggcaccaaaatcccattaaggactgattataagcttcatggtacagtt c.*1080
. . . . . . g.54198
cagcaaattatgattcattgaggggcacagaggaccagtgttggtgacagctaggggatg c.*1140
. . . . . . g.54258
atgacctgaggttataggcttggggtgaatgaagcatagagtttttttttaaaaaagaag c.*1200
. . . . . . g.54318
ggattgttgaaaacctggcaaaaatgtataatttaatgagaaaacttgctgcttttaaaa c.*1260
. . . . . . g.54378
tccatataggccaggctttagcaggcatgctgttttgatagtttttgggaactctggaat c.*1320
. . . . . . g.54438
aagagacttatctcatctgtcacttcgagttgttggccagccagttaaagctgtgggtcg c.*1380
. . . . . . g.54498
aagaggggaaatgttaactggctggtgtcaattggataggaagaccttagttaaggtggg c.*1440
. . . . . . g.54558
gacccgctgttttaacagtcttcattcagggtcccaaatagtatttggctttaagtaatg c.*1500
. . . . . . g.54618
attggttttccctttttactagaggggccctgggaagtccttgtacctttcctccatttt c.*1560
. . . . . . g.54678
aaaccagctgttctctactttgtccttggaatgagggacaagtgatcatgacagaacact c.*1620
. . . . . . g.54738
ttgtcattgggactgggaaaggtttggcaagggcattaaatttaacagccagtgccagga c.*1680
. . . . . . g.54798
aaatataaaatggggtcaatgataaacagctgttagaggctggaaaatgggtagggcagt c.*1740
. . . . . . g.54858
tgaattttttggtggtttcgtaccatttgggtgattgaagcatggtagtgggtgggtggg c.*1800
. . . . . . g.54918
gggtgtgacagagcatcatgtttgttattctgccttaaatttctacttactgtctttttc c.*1860
. . . . . . g.54978
ttctctgtcttccaatcactttaatatcttcaattttcaaactatatttgtacttgggct c.*1920
. . . . . . g.55038
tagatagaaagtcttacacaagcatagtatcttctactttggttttccctaccttttctt c.*1980
. . . . . . g.55098
ccccaccttctccaaacacacatatacatactctactcaattctatttctgattttgtag c.*2040
. . . . . . g.55158
ttgttagttgtccatgctcaggataaaaaatgagtgggtagggttgagggactggttctt c.*2100
. . . . . . g.55218
tgaggttctgccctttttccatgattcagaccaactttctcttggtcatttctggagtat c.*2160
. . . . . . g.55278
aactgactcaattcttgtaaaaatgtgttccacccaaaccactgtatgttcttttcccta c.*2220
. . . . . . g.55338
ctttattttctcctaccttccttctcctaattgtgttacaagaggcagccatagcaagaa c.*2280
. . . g.55376
tggaaaatccagatcagtaaaagattcaacaaaaaaaa c.*2318
(downstream sequence)
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