(used for variant description)
(last modified September 10, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001206998.1 in the ZNRF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering ZNRF3 transcript NM_001206998.1.
(upstream sequence)
. . . . . . g.60
ATGAGGCCGCGCTCGGGCGGGCGCCCAGGGGCCACGGGCCGCCGCCGCCGCCGCCTGCGC c.60
M R P R S G G R P G A T G R R R R R L R p.20
. . . . . . g.120
CGCCGCCCCCGCGGCCTCCGGTGCAGCCGCCTGCCGCCGCCGCCGCCGCTGCCGCTGCTG c.120
R R P R G L R C S R L P P P P P L P L L p.40
. . . . . . g.180
CTCGGGCTGCTGCTGGCGGCCGCGGGGCCCGGCGCGGCGCGGGCCAAGGAGACGGCGTTC c.180
L G L L L A A A G P G A A R A K E T A F p.60
. . . . . . g.240
GTGGAGGTGGTGCTGTTCGAGTCGAGCCCAAGCGGCGATTACACCACCTACACCACCGGC c.240
V E V V L F E S S P S G D Y T T Y T T G p.80
. . . . . . g.300
CTCACGGGCCGCTTCTCGCGGGCCGGGGCCACGCTCAGCGCCGAGGGCGAGATCGTGCAG c.300
L T G R F S R A G A T L S A E G E I V Q p.100
| 02 . . . . . . g.103369
| ATGCACCCACTGGGCCTATGTAATAACAATGACGAAGAGGACTTGTATGAATATGGCTGG c.360
| M H P L G L C N N N D E E D L Y E Y G W p.120
. . . . . . g.103429
GTAGGAGTGGTGAAGCTGGAACAGCCAGAATTGGACCCGAAACCATGCCTCACTGTCCTA c.420
V G V V K L E Q P E L D P K P C L T V L p.140
| 03 . . . . . . g.158782
GGCAAG | GCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAA c.480
G K | A K R A V Q R G A T A V I F D V S E p.160
. . | 04 . . . . g.159571
AACCCAGAAGCTATTGATCAG | CTGAACCAGGGCTCTGAAGACCCGCTCAAGAGGCCGGTG c.540
N P E A I D Q | L N Q G S E D P L K R P V p.180
. . . . . . g.159631
GTGTATGTGAAGGGTGCAGATGCCATTAAGCTGATGAACATCGTCAACAAGCAGAAAGTG c.600
V Y V K G A D A I K L M N I V N K Q K V p.200
. . . | 05 . . . g.161040
GCTCGAGCAAGGATCCAGCACCGCCCTCCTCGA | CAACCCACTGAATACTTTGACATGGGG c.660
A R A R I Q H R P P R | Q P T E Y F D M G p.220
. . . . . . g.161100
ATTTTCCTGGCTTTCTTCGTCGTGGTCTCCTTGGTCTGCCTCATCCTCCTTGTCAAAATC c.720
I F L A F F V V V S L V C L I L L V K I p.240
. . | 06 . . . . g.162985
AAGCTGAAGCAGCGACGCAGTCAG | AATTCCATGAACAGGCTGGCTGTGCAGGCTCTAGAG c.780
K L K Q R R S Q | N S M N R L A V Q A L E p.260
. . . . . . g.163045
AAGATGGAAACCAGAAAGTTCAACTCCAAGAGCAAGGGGCGCCGGGAGGGGAGCTGTGGG c.840
K M E T R K F N S K S K G R R E G S C G p.280
. . . . . . g.163105
GCCCTGGACACACTCAGCAGCAGCTCCACGTCCGACTGTGCCATCTGTCTGGAGAAGTAC c.900
A L D T L S S S S T S D C A I C L E K Y p.300
. | 07 . . . . . g.164670
ATTGATGGAGAG | GAGCTGCGGGTCATCCCCTGTACTCACCGGTTTCACAGGAAGTGCGTG c.960
I D G E | E L R V I P C T H R F H R K C V p.320
. . . . . | 08 . g.165435
GACCCCTGGCTGCTGCAGCACCACACCTGCCCCCACTGTCGGCACAACATCATAG | AACAA c.1020
D P W L L Q H H T C P H C R H N I I E | Q p.340
. . . . . . g.165495
AAGGGAAACCCAAGCGCGGTGTGTGTGGAGACCAGCAACCTCTCACGTGGTCGGCAGCAG c.1080
K G N P S A V C V E T S N L S R G R Q Q p.360
. . . . . . g.165555
AGGGTGACCCTGCCGGTGCATTACCCCGGCCGCGTGCACAGGACCAACGCCATCCCAGCC c.1140
R V T L P V H Y P G R V H R T N A I P A p.380
. . . . . . g.165615
TACCCTACGAGGACAAGCATGGACTCCCACGGCAACCCCGTCACCTTGCTGACCATGGAC c.1200
Y P T R T S M D S H G N P V T L L T M D p.400
. . . . . . g.165675
CGGCACGGGGAGCAGAGCCTCTATTCCCCGCAGACCCCCGCCTACATCCGCAGCTACCCA c.1260
R H G E Q S L Y S P Q T P A Y I R S Y P p.420
. . . . . . g.165735
CCCCTCCACCTGGACCACAGCCTGGCCGCTCACCGCTGCGGCCTGGAGCACCGGGCCTAC c.1320
P L H L D H S L A A H R C G L E H R A Y p.440
. . . . . . g.165795
TCCCCAGCCCACCCCTTCCGCAGGCCCAAGTTGAGTGGCCGCAGCTTCTCCAAGGCAGCT c.1380
S P A H P F R R P K L S G R S F S K A A p.460
. . . . . . g.165855
TGCTTCTCCCAGTATGAGACCATGTACCAGCACTACTACTTCCAGGGCCTCAGCTACCCG c.1440
C F S Q Y E T M Y Q H Y Y F Q G L S Y P p.480
. . . . . . g.165915
GAGCAGGAGGGGCAGTCCCCACCTAGCCTCGCACCCCGGGGCCCGGCCCGTGCCTTTCCT c.1500
E Q E G Q S P P S L A P R G P A R A F P p.500
. . . . . . g.165975
CCGAGCGGCAGTGGCAGCCTGCTCTTCCCCACCGTGGTGCACGTGGCCCCGCCCTCCCAC c.1560
P S G S G S L L F P T V V H V A P P S H p.520
. . . . . . g.166035
CTGGAGAGCGGCAGCACGTCCAGCTTCAGCTGCTATCACGGCCACCGCTCGGTGTGCAGT c.1620
L E S G S T S S F S C Y H G H R S V C S p.540
. . . . . . g.166095
GGCTACCTGGCCGACTGCCCAGGCAGCGACAGCAGCAGCAGCAGCAGCTCCGGCCAGTGC c.1680
G Y L A D C P G S D S S S S S S S G Q C p.560
. . . . . . g.166155
CACTGTTCCTCCAGTGACTCTGTGGTAGACTGCACTGAGGTCAGCAACCAGGGCGTGTAC c.1740
H C S S S D S V V D C T E V S N Q G V Y p.580
. . . . . . g.166215
GGGAGCTGCTCCACCTTCCGCAGCTCCCTCAGCAGCGACTATGACCCCTTCATCTACCGC c.1800
G S C S T F R S S L S S D Y D P F I Y R p.600
. . . . . . g.166275
AGCCGGAGCCCCTGTCGTGCCAGTGAGGCGGGGGGCTCGGGCAGCTCGGGCCGGGGACCT c.1860
S R S P C R A S E A G G S G S S G R G P p.620
. . . . . . g.166335
GCCCTGTGCTTCGAGGGCTCCCCGCCTCCCGAGGAGCTCCCGGCGGTGCACAGTCATGGT c.1920
A L C F E G S P P P E E L P A V H S H G p.640
. . . . . . g.166395
GCTGGGCGGGGCGAGCCTTGGCCGGGCCCTGCCTCTCCCTCGGGGGATCAGGTGTCCACC c.1980
A G R G E P W P G P A S P S G D Q V S T p.660
. . . . . . g.166455
TGCAGCCTGGAGATGAACTACAGCAGCAACTCCTCCCTGGAGCACAGGGGGCCCAATAGC c.2040
C S L E M N Y S S N S S L E H R G P N S p.680
. . . . . . g.166515
TCTACCTCAGAAGTGGGGCTCGAGGCTTCTCCTGGGGCCGCCCCTGACCTCAGGAGGACC c.2100
S T S E V G L E A S P G A A P D L R R T p.700
. . . . . . g.166575
TGGAAGGGGGGCCACGAGTTGCCGTCGTGTGCCTGCTGCTGCGAGCCCCAGCCCTCCCCA c.2160
W K G G H E L P S C A C C C E P Q P S P p.720
. . . . . . g.166635
GCCGGGCCTAGCGCCGGAGCAGCTGGCAGCAGCACCTTGTTCCTGGGGCCCCACCTCTAC c.2220
A G P S A G A A G S S T L F L G P H L Y p.740
. . . . . . g.166695
GAGGGCTCTGGCCCGGCGGGTGGGGAGCCCCAGTCAGGAAGCTCCCAGGGCTTGTACGGC c.2280
E G S G P A G G E P Q S G S S Q G L Y G p.760
. . . . . . g.166755
CTTCACCCCGACCATTTGCCCAGGACAGATGGGGTGAAATACGAGGGTCTGCCCTGCTGC c.2340
L H P D H L P R T D G V K Y E G L P C C p.780
. . . . . . g.166815
TTCTATGAAGAGAAGCAGGTGGCCCGCGGGGGCGGAGGGGGCAGCGGCTGCTACACTGAG c.2400
F Y E E K Q V A R G G G G G S G C Y T E p.800
. . . . . . g.166875
GACTACTCGGTGAGTGTGCAGTACACGCTCACCGAGGAACCACCGCCCGGCTGCTACCCC c.2460
D Y S V S V Q Y T L T E E P P P G C Y P p.820
. . . . . . g.166935
GGGGCCCGGGACCTGAGCCAGCGCATCCCCATCATTCCAGAGGATGTGGACTGTGATCTG c.2520
G A R D L S Q R I P I I P E D V D C D L p.840
. . . . . . g.166995
GGCCTGCCCTCGGACTGCCAAGGGACCCACAGCCTCGGCTCCTGGGGTGGGACGCGAGGC c.2580
G L P S D C Q G T H S L G S W G G T R G p.860
. . . . . . g.167055
CCGGATACCCCACGGCCCCACAGGGGCCTGGGAGCAACCCGGGAAGAGGAGCGGGCTCTG c.2640
P D T P R P H R G L G A T R E E E R A L p.880
. . . . . . g.167115
TGCTGCCAGGCTAGGGCCCTACTGCGGCCTGGCTGCCCTCCGGAGGAGGCGGGTGCTGTC c.2700
C C Q A R A L L R P G C P P E E A G A V p.900
. . . . . . g.167175
AGGGCCAACTTCCCTAGTGCCCTCCAGGACACTCAGGAGTCCAGCACCACTGCCACTGAG c.2760
R A N F P S A L Q D T Q E S S T T A T E p.920
| 09. . . . . g.169865
GCTGCAG | GACCGAGATCTCACTCAGCAGACAGCAGCAGCCCGGGAGCCTGA c.2811
A A G | P R S H S A D S S S P G A X p.936
. . . . . . g.169925
gctcaggaggaactcttacctggaaattgggaactgtatggagactccaaactgacttct c.*60
. . . . . . g.169985
ttcaaaaaacaaaaacaaaaaatttttttagctttgacaaacacacaaaagtggtaataa c.*120
. . . . . . g.170045
agagagccctccttgtcaacccaaaatgtgagccccctgtggcaaaaccaccccctaccc c.*180
. . . . . . g.170105
cattaacaaatcaacagacaaaattctccgagtcctttgcctcttttgataacatgttgt c.*240
. . . . . . g.170165
tctgttttgtaaagtgtgtgtgcttggggttccgaggtgtgggattgagttctctgcttt c.*300
. . . . . . g.170225
gtttttttttaagatattgtatgtaaatgtaaaaagttatttaaatatatattttaaaga c.*360
. . . . . . g.170285
accctaactgccaacttttgctgaaaaagaaaaaaaaatcactgctgcattaaatgaacc c.*420
. . . . . . g.170345
acatcatgtgtagatactgttgtctccctgaagggagctcaggcctttgaaaagctcagg c.*480
. . . . . . g.170405
gcttcacctgccttagaaaatgaaccagaaacttgaagtaaagctagttgataggggtac c.*540
. . . . . . g.170465
aggctctgaggagcagtgcaaaactgcctctttctttctcgtggcaaatcccaatgtaca c.*600
. . . . . . g.170525
cgatttcaggtctcagacgccatgcctctccagcccacgcctttaggcaggtgatggcag c.*660
. . . . . . g.170585
cagctaggaatagggtgtacatgatccacagccctgcggagccaggtcaagccgctgcta c.*720
. . . . . . g.170645
tgaaagctccagggtgatggggacgattctgcccagtgtcctcagtctgtcccctcaggt c.*780
. . . . . . g.170705
catggtcccaagtgaaatgacagagttcacagccctggtcttggctgaggtccaggtcat c.*840
. . . . . . g.170765
agtaagggcatgttcttggggccctcgacctgaactctgaccctccgggcagggaagagg c.*900
. . . . . . g.170825
aggttgtcccctttggttgtcctggctttggagtcctttgcaaaaatattttgggccccc c.*960
. . . . . . g.170885
tgccactggctgcagaaatggctcgacggggtgtgtggggacagacacccagaaggaatg c.*1020
. . . . . . g.170945
tacttttgtggccttggtgtccgatggggctgggggagagtgctctccactgacccagca c.*1080
. . . . . . g.171005
gcacacccatgtgcagtgcgcctgcatctgtgtgggggcagccacaccccttggctgctg c.*1140
. . . . . . g.171065
cttccttgggctgcctttctgggggcatgtgactggacctacgaggtctgcactgagctc c.*1200
. . . . . . g.171125
catttgaatgatacctttcctatcccatttcccccacggaagcaccgcttcagggttatt c.*1260
. . . . . . g.171185
cagtcctctgcctcatggctgaaattgctcatctcgtctgcagatgtctactatcctgtc c.*1320
. . . . . . g.171245
tacctaatgcactattatgtattgattctccatgagacagagagagagagagactatcag c.*1380
. . . . . . g.171305
atagtttacacccaaagggtaggtttttgtatatttttccagccttttttattaagggga c.*1440
. . . . . . g.171365
aggggagagtttaaaaacccaaaccgttgtggttttaaggtgtttcatttttaaaaggga c.*1500
. . . . . . g.171425
gagagaatctatttaaagctatttcagatcagggattgtcatccttttttgtccaatgta c.*1560
. . . . . . g.171485
ttccttgttctttaaaaaaattttttttagaggaaactaatattagtctttgtgttcact c.*1620
. . . . . . g.171545
aactcttctggtcacttgtatttatttattcattcattcatcagatatttgttgccatct c.*1680
. . . . . . g.171605
gaaagaactggcccagtgggtctgaaagctcgcttgagaataggaaacttgagacctggc c.*1740
. . . . . . g.171665
cccctgtgggtaggagaacaaggaccacctgggttctccagtcttgaacgagaatctcac c.*1800
. . . . . . g.171725
tcttatcagaatgtttttcttaacctcagcgtatgatgaggaaatttacttatctctagc c.*1860
. . . . . . g.171785
taggatttgacaaattccaacatcaaatgatcaaaacatttgccactgaggcttcactgg c.*1920
. . . . . . g.171845
tgagatccgttctccgtcctcgggtgcagtcccttgggggctgctcctcggactgcgccc c.*1980
. . . . . . g.171905
cgcacacctgttatcgagggtgtgagaagcgcctaagctggtgacatgtgatctgggacg c.*2040
. . . . . . g.171965
ccttcatttctcgggccaggagtagcagctgctaaggacagcagcttgcattgcgtggtt c.*2100
. . . . . . g.172025
ttagggaagcagggtctggcttttaatatgaactgcaaaaagcagcttctcactgatatt c.*2160
. . . . . . g.172085
tttttgttgttgtttctggggggtttttttgttttgtttttaatgcctttgagtgcatat c.*2220
. . . . . . g.172145
tttcttcctcgtctgaaaccgaactcccaaagtggctttctttagccctggctggaaaac c.*2280
. . . . . . g.172205
cacctctcaatagccttaagcaataaatagatgagtagagaatgtggcttcaactgggct c.*2340
. . . . . . g.172265
tattaaagtaagtgtgtctagttttcacttgaacaagtgatagctgcagatggcgaaaga c.*2400
. . . . . . g.172325
aacccatttaatttttgtagcttacaggtggtagaaacaaaaatgcaattttaaaacctt c.*2460
. . . . . . g.172385
aaataccaaataccaaccattgccttttttttttttgagatggaattttgctcttgtcac c.*2520
. . . . . . g.172445
ccaggctggagtgcaatggcgcgatctcacctcactgcaacctctgcctcccgggtccaa c.*2580
. . . . . . g.172505
gtgattctcctgcctcagcctcccaagtagctgggattacaggcatgcgccaccacaccc c.*2640
. . . . . . g.172565
agctaattttgtatttttggtagagacagggtatctccatgttggtcaggctggtcttgg c.*2700
. . . . . . g.172625
attcccgacctcaggtgatccgcccacctcggcctcccaaagtgctgggattacaggcgt c.*2760
. . . . . . g.172685
gagccaccatgcctgcccagcaataccaaccattgtcttttaaattcgtgttggcttctc c.*2820
. . . . . . g.172745
agacagggagatcactggaataaaataaccgatggtcttattttgtcacacgtaaatcaa c.*2880
. . . . . . g.172805
aagaaatgtcctctttgaagttgtaagactccaccaatgacagacacccttttcggtgga c.*2940
. . . . . . g.172865
ctctgagtggtgtgtagtggttttatagccatggaaactaggagtatctcactttccact c.*3000
. . . . . . g.172925
gagaacccctgcccccaatccctctaagttggggtgtggcagttgggcagggtcaagtga c.*3060
. . . . . . g.172985
cccagccctggctgtaggacagccatatacagtgaagagttctagaaccagctaaaaatg c.*3120
. . . . . . g.173045
gaagtttgggtgtttaccaacaaggtacctctttatggatgcagccccagtaagctggct c.*3180
. . . . . . g.173105
ttaactctcagctccttccctgtctcctcctaatccaagcccttttataaaataaagccc c.*3240
. . . . . . g.173165
cttctgtcccactgctcacatacttatgtgctgctagtctctactcgaagttcgtgcagg c.*3300
. . . . . . g.173225
actaatgcttttaaaatgaggtctaaaaaataattactagtcgagactattattctttaa c.*3360
. . . . . . g.173285
acagaactgcctttttctactctttatgtaaactctttctattgtgttggtctaacaagg c.*3420
. . . . . . g.173345
cactattttaaaattttttaatttttcccatagcacttaaaagagattttgtaaagacct c.*3480
. . . . . . g.173405
tgctgtaaagattttgtaataaaatggtctaagggctctttttccaacattaccattttt c.*3540
. . . . . . g.173465
aaaaaatgttttaaaagctagaagacaacttatgtatattctgtatatgtatagcagcac c.*3600
. . . . . . g.173525
atttcatttatggaaatatgttctcagaatatttatttactaatatatttatcttaagcc c.*3660
. . . . . . g.173585
atgtcttatgttgagagtgtgacattgttggaataatcattgaaaatgactaacacaaga c.*3720
. . . . . . g.173645
ccctgtaaatacatgataattgcacacagattttacatatttgcagaccaaaaatgattt c.*3780
. . . . . . g.173705
aaaacaagttgtagtcttctatggttttgtaacaaattgtacacatgactgtaaaaaaaa c.*3840
. . g.173731
aatacaattttatcaagtatgtgtta c.*3866
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2024 Leiden University Medical Center