(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the TNFRSF13C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering TNFRSF13C transcript NM_052945.3.
(upstream sequence)
. . . . . . g.60
CGTCCTTGTCTCCGTCGGGGGCCTCTGCGGAGGACGCGCCGCGAAGCCGCCGCTGTCGCC c.60
R P C L R R G P L R R T R R E A A A V A p.20
. . . . . . g.120
GCCTCCAGCTCACCAGACCCACCAGGACCAGCGCCAGGACCAGTGCCAGGCCCAGCAGCG c.120
A S S S P D P P G P A P G P V P G P A A p.40
. . . . . . g.180
CGGGGGCGCCAAAGAGCAGCCCGGGCAGGGGCAGCGCCGCCTCGCCGGCCCCCGCGCCCA c.180
R G R Q R A A R A G A A P P R R P P R P p.60
. . . . . | 02 . g.546
CCGACTCCTGCGGCTGCAGCGCCGTCCTGGGCGCAGGGCTGCTGGCCCCGG | CCGGTTTCG c.240
P T P A A A A P S W A Q G C W P R | P V S p.80
. . . . . . g.606
GCCGCGGCGTGCGCAGGAGCCCGCAGGCCACGCAGTGGCGGACCAGCAGGTCGAAGCACT c.300
A A A C A G A R R P R S G G P A G R S T p.100
. . . . . . g.666
CGGCCGGGACGCAGGGCGTGGGGGCTGGCGCGTCCCTGCCCCGCAGGCTCCGGGGCCCTC c.360
R P G R R A W G L A R P C P A G S G A L p.120
. . . . g.708
GCCTCATGGTGCCGACGCCGCCGCACAAGCTGCGGGGACTGA | c.403
A S W C R R R R T S C G D X p.133
| 03 . . . . . g.768
ggctgagct | a c.*10
(downstream sequence)
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