Variant #0000001902 (NC_000005.9:g.148406435G>A, SH3TC2(NM_024577.3):c.2860C>T)
Individual ID |
00001902 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.148406435G>A |
Reference |
Senderek J1, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N(2003) |
DB-ID |
SH3TC2_000003 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00076 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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