(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TNFRSF13B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering TNFRSF13B transcript NM_012452.2.
(upstream sequence)
. . . . . . g.60
CCTGGGAAGACTTGGCCGGACTTTGACGGGGCCTTGAGCGGGGCTGGCAGGAGCAGGGAT c.60
P G K T W P D F D G A L S G A G R S R D p.20
. g.75
CCCCCCTCTTCTTGA c.75
P P S S X p.24
. . . . . . g.135
ggaagcaggccaccgccaccaggaagcagcagaggacggcacacaggcagagccccagcg c.*60
. . . . . | 02 . g.8421
tgctgtagaccagggccacctgatctgcactcagcttcagccccgggagag | ctggacttg c.*120
. . . . . . g.8481
cttctgagcctctgtgctccaatccttggtaccttcccgagttgtctgaattgttttcaa c.*180
. . . . . . g.8541
cttctccactccgctgtctcctgagctctggtggaaggttcactgggctcctgagcttgt c.*240
. . . . . . g.8601
tctcacagaagtatgcacattgcttagggtgctgtccacagatggaggcacagctgatgc c.*300
. . . . . | 03. g.12123
agtccctcaggagatggtcatagaacttgccttgctccttgcggcagctgagtgacc | tgc c.*360
. . . . . . g.12183
agaaggctgcacaggtgcgctggctctgatggttgcaaatggttttgcaggacatgcagg c.*420
. . . . . . g.12243
tacccagcagaggatcccagtactgctcttcggggcaggatctcatagccacccccgtcc c.*480
. | 04 . . . . . g.31734
acaggccctgtggaa | agcgctcctcctggtccacacggctccggccacctcgcctgctcc c.*540
. . | 05 . . . g.31794
ggcccaggccactcattactcaggatgct | g c.*570
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center