(used for variant description)
(last modified September 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_020223.3 in the FAM20C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033970.1, covering FAM20C transcript NM_020223.3.
(upstream sequence)
. . . . . g.5051
gcggccgctccggagaggccgagcggggacgggcccgagatggcgcgggga c.-181
. . . . . . g.5111
cccagcgctccggcggcgggcgccctgcacgcggcccgggcccggggacagccccggagc c.-121
. . . . . . g.5171
tggtagccgcccggcaccgatggaccttgacccgcgaggcggcgccgcgctcgtgcccag c.-61
. . . . . . g.5231
ctgcagctagaggggcgcgcgggcagaacgcgctccaggcccgggccggcccgcgcggcc c.-1
. . . . . . g.5291
ATGAAGATGATGCTGGTGCGCCGGTTCCGCGTGCTCATCCTGATGGTGTTCCTGGTGGCC c.60
M K M M L V R R F R V L I L M V F L V A p.20
. . . . . . g.5351
TGCGCGCTGCACATCGCCCTGGACCTGCTGCCCAGGCTGGAGCGACGCGGCGCGCGGCCC c.120
C A L H I A L D L L P R L E R R G A R P p.40
. . . . . . g.5411
TCGGGGGAGCCCGGCTGTTCGTGCGCGCAGCCCGCCGCCGAGGTGGCCGCGCCCGGCTGG c.180
S G E P G C S C A Q P A A E V A A P G W p.60
. . . . . . g.5471
GCCCAGGTTCGGGGCCGCCCCGGGGAGCCCCCGGCCGCCTCCTCCGCCGCCGGCGACGCG c.240
A Q V R G R P G E P P A A S S A A G D A p.80
. . . . . . g.5531
GGCTGGCCCAACAAGCACACGCTCCGCATCCTGCAGGACTTCAGCTCCGACCCCTCCTCC c.300
G W P N K H T L R I L Q D F S S D P S S p.100
. . . . . . g.5591
AACCTCTCGTCCCACTCGCTGGAGAAACTGCCGCCCGCGGCCGAGCCGGCCGAGCGCGCC c.360
N L S S H S L E K L P P A A E P A E R A p.120
. . . . . . g.5651
TTGCGGGGGCGGGATCCCGGCGCCCTAAGACCCCACGACCCCGCGCACCGGCCGCTGCTG c.420
L R G R D P G A L R P H D P A H R P L L p.140
. . . . . . g.5711
CGAGACCCCGGCCCGCGTCGGTCCGAGTCGCCCCCCGGCCCCGGCGGAGACGCCTCCCTC c.480
R D P G P R R S E S P P G P G G D A S L p.160
. . . . . . g.5771
CTGGCCAGGCTGTTCGAGCACCCGCTTTACCGGGTGGCGGTTCCGCCGCTCACGGAGGAG c.540
L A R L F E H P L Y R V A V P P L T E E p.180
. . . . . . g.5831
GACGTCCTGTTCAATGTGAACAGCGACACCAGGCTCAGCCCCAAAGCGGCGGAGAACCCG c.600
D V L F N V N S D T R L S P K A A E N P p.200
| 02 . . . . . . g.7640
GACTG | GCCGCATGCGGGTGCTGAAGGTGCAGAATTCCTCTCCCCCGGGGAGGCGGCCGTG c.660
D W | P H A G A E G A E F L S P G E A A V p.220
. . . . . . g.7700
GACTCCTATCCCAACTGGCTCAAGTTCCACATTGGTATCAACCGGTACGAGCTGTACTCC c.720
D S Y P N W L K F H I G I N R Y E L Y S p.240
. . . . . . g.7760
AGACACAACCCGGCCATCGAGGCCCTGCTGCACGACCTCAGCTCCCAGAGGATCACCAGC c.780
R H N P A I E A L L H D L S S Q R I T S p.260
| 03 . . . . . . g.20985
GTGG | CCATGAAGTCGGGGGGCACGCAGCTGAAGCTCATCATGACCTTCCAGAATTACGGG c.840
V A | M K S G G T Q L K L I M T F Q N Y G p.280
. . | 04 . . . . g.56087
CAAGCGCTGTTCAAACCCATGAA | ACAAACGAGGGAGCAGGAGACACCCCCTGACTTTTTT c.900
Q A L F K P M K | Q T R E Q E T P P D F F p.300
. . . . . | 05 . g.57954
TATTTCTCTGACTACGAGAGGCACAATGCGGAGATTGCTGCCTTCCACCTGGACAG | GATC c.960
Y F S D Y E R H N A E I A A F H L D R | I p.320
. . . . . . g.58014
CTGGACTTCCGCCGGGTCCCTCCCGTGGCCGGCAGGATGGTCAACATGACCAAGGAGATC c.1020
L D F R R V P P V A G R M V N M T K E I p.340
. . . . . | 06 . g.65492
CGGGACGTCACACGGGACAAGAAGCTCTGGAGGACCTTCTTCATCTCTCCAG | CCAACAAC c.1080
R D V T R D K K L W R T F F I S P A | N N p.360
. . . . . . g.65552
ATCTGCTTCTACGGCGAGTGTTCCTACTACTGCTCCACGGAGCACGCCCTGTGCGGGAAG c.1140
I C F Y G E C S Y Y C S T E H A L C G K p.380
. . . . . . g.65612
CCAGACCAGATCGAGGGCTCGCTGGCGGCCTTCCTGCCCGACCTGTCCCTGGCCAAGAGG c.1200
P D Q I E G S L A A F L P D L S L A K R p.400
. . . . . | 07 . g.66296
AAGACCTGGCGGAACCCTTGGCGGCGTTCCTACCACAAGCGCAAGAAGGCCGA | GTGGGAG c.1260
K T W R N P W R R S Y H K R K K A E | W E p.420
. . . . . . g.66356
GTGGACCCTGACTACTGCGAGGAGGTGAAGCAGACACCGCCCTACGACAGCAGCCACCGC c.1320
V D P D Y C E E V K Q T P P Y D S S H R p.440
. . . . | 08 . . g.66657
ATCCTGGACGTCATGGACATGACGATCTTCGACTTCCTCATGG | GAAACATGGACCGTCAC c.1380
I L D V M D M T I F D F L M G | N M D R H p.460
. . . . . . g.66717
CACTACGAGACTTTTGAGAAGTTTGGGAATGAAACGTTCATCATCCACTTAGACAATGGA c.1440
H Y E T F E K F G N E T F I I H L D N G p.480
| 09 . . . . . . g.68336
AGAGG | GTTTGGGAAGTATTCGCACGACGAGCTCTCCATCCTGGTGCCGCTACAGCAGTGC c.1500
R G | F G K Y S H D E L S I L V P L Q Q C p.500
| 10 . . . . . . g.69421
TGCAG | GATCCGGAAGTCCACCTACCTGCGTCTGCAGCTCCTGGCCAAGGAGGAGTACAAG c.1560
C R | I R K S T Y L R L Q L L A K E E Y K p.520
. . . . . . g.69481
CTGAGCCTGCTGATGGCCGAGTCTCTGCGGGGGGACCAGGTGGCACCCGTGCTGTACCAG c.1620
L S L L M A E S L R G D Q V A P V L Y Q p.540
. . . . . . g.69541
CCGCACCTGGAGGCCCTGGACCGGCGGCTCCGCGTCGTGCTAAAGGCCGTCCGGGACTGC c.1680
P H L E A L D R R L R V V L K A V R D C p.560
. . . . . . g.69601
GTGGAGAGGAACGGGCTCCACAGCGTGGTGGATGACGACCTGGACACTGAGCACAGAGCC c.1740
V E R N G L H S V V D D D L D T E H R A p.580
. g.69616
GCCTCGGCGAGGTAG c.1755
A S A R X p.584
. . . . . . g.69676
tgtccgccggccgctgcgctgcccgggacggagacagaggcgccggacctcccagcaagc c.*60
. . . . . . g.69736
gcatgcgcccgtcgtgaattcagtgaattcagaggcaggacgggatcatccggagtcggg c.*120
. . . . . . g.69796
agctgctgccacaggaggcgaggctccccaggtctcataggacacattttgtcagtgttt c.*180
. . . . . . g.69856
gaccagaaaagcttgggaaggaagcgctgtctgtgctcacggacagaggcggccggcgcc c.*240
. . . . . . g.69916
ggaggcattccatcctttctgtagggaaaggagcctttatttactattttgtatttatat c.*300
. . . . . . g.69976
ttgatgaataagtatataaacagagacgtgtacacagatgccaatcacctaccaaaccaa c.*360
. . . . . . g.70036
acacgaggaccgccctccctggttctgggggcccctcaaggccaagctcacccctcaagt c.*420
. . . . . . g.70096
gctctcacactcgggacctaattcaagtaaaaaccctttctccttcctggggcctcggct c.*480
. . . . . . g.70156
cctggagggctggagggtctcgtctgaggacgggaggaggctctcgctggacgtctggcc c.*540
. . . . . . g.70216
tgtgcgctggtggacggatgcctacgtggttttggaggacccgatgaccaggcgtcctgc c.*600
. . . . . . g.70276
gagtccgcccgctggcctgcagcacccacctcggacttggctgtggacggttggtgcaag c.*660
. . . . . . g.70336
tgcatcctgcagggctggctgtgcgcagctgtgggctgacctttgcagagttttgtggaa c.*720
. . . . . . g.70396
tagtttgcaatgtcataaaagtgcaataaaggtacagcagatgtgtgtcggcctcacggg c.*780
. g.70410
gcgggtccctcaca c.*794
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21d
©2004-2019 Leiden University Medical Center