(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)Legend:
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