(used for variant description)
(last modified October 5, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_033163.3 in the FGF8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering FGF8 transcript NM_033163.3.
(upstream sequence)
. . . . g.9409
acccgcaccctctccgctcgcgccctgctcagcgcgtcctcc c.-61
. . . . . . g.9469
cgcggcggcccgcgggacggcgtgacccgccgggctctcggtgccccggggccgcgcgcc c.-1
. . . | 02 . . . g.9621
ATGGGCAGCCCCCGCTCCGCGCTGAGCTGCCT | GCTGTTGCACTTGCTGGTCCTCTGCCTC c.60
M G S P R S A L S C L | L L H L L V L C L p.20
| 03 . . . . . g.10204
CAAGCCCAG | GAAGGCCCGGGCAGGGGCCCTGCGCTGGGCAGGGAGCTCGCTTCCCTGTTC c.120
Q A Q | E G P G R G P A L G R E L A S L F p.40
. . . | 04 . . . g.10481
CGGGCTGGCCGGGAGCCCCAGGGTGTCTCCCAACAG | GTAACTGTTCAGTCCTCACCTAAT c.180
R A G R E P Q G V S Q Q | V T V Q S S P N p.60
. . . . . . g.10541
TTTACACAGCATGTGAGGGAGCAGAGCCTGGTGACGGATCAGCTCAGCCGCCGCCTCATC c.240
F T Q H V R E Q S L V T D Q L S R R L I p.80
. . . . . . g.10601
CGGACCTACCAACTCTACAGCCGCACCAGCGGGAAGCACGTGCAGGTCCTGGCCAACAAG c.300
R T Y Q L Y S R T S G K H V Q V L A N K p.100
. . . | 05. . . g.13823
CGCATCAACGCCATGGCAGAGGACGGCGACCCCTTCG | CAAAGCTCATCGTGGAGACGGAC c.360
R I N A M A E D G D P F A | K L I V E T D p.120
. . . . . . g.13883
ACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACGGGCCTCTACATCTGCATGAAC c.420
T F G S R V R V R G A E T G L Y I C M N p.140
. . | 06 . . . . g.14786
AAGAAGGGGAAGCTGATCGCCAAG | AGCAACGGCAAAGGCAAGGACTGCGTCTTCACGGAG c.480
K K G K L I A K | S N G K G K D C V F T E p.160
. . . . . . g.14846
ATTGTGCTGGAGAACAACTACACAGCGCTGCAGAATGCCAAGTACGAGGGCTGGTACATG c.540
I V L E N N Y T A L Q N A K Y E G W Y M p.180
. . . . . . g.14906
GCCTTCACCCGCAAGGGCCGGCCCCGCAAGGGCTCCAAGACGCGGCAGCACCAGCGTGAG c.600
A F T R K G R P R K G S K T R Q H Q R E p.200
. . . . . . g.14966
GTCCACTTCATGAAGCGGCTGCCCCGGGGCCACCACACCACCGAGCAGAGCCTGCGCTTC c.660
V H F M K R L P R G H H T T E Q S L R F p.220
. . . . . . g.15026
GAGTTCCTCAACTACCCGCCCTTCACGCGCAGCCTGCGCGGCAGCCAGAGGACTTGGGCC c.720
E F L N Y P P F T R S L R G S Q R T W A p.240
. g.15041
CCCGAGCCCCGATAG c.735
P E P R X p.244
. . . . . . g.15101
gtgctgcctggccctccccacaatgccagaccgcagagaggctcatcctgtagggcaccc c.*60
. . . . . . g.15161
aaaactcaagcaagatgagctgtgcgctgctctgcaggctggggaggtgctgggggagcc c.*120
. . . . . . g.15221
ctgggttccggttgttgatattgtttgctgttgggtttttgctgtttttttttttttttt c.*180
. g.15240
tttttttaaaacaaaagag c.*199
(downstream sequence)
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