Variant #0000002373 (NC_000004.11:g.84191031A>G, COQ2(NM_015697.7):c.894T>C)
Individual ID |
00002373 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.84191031A>G |
Reference |
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA1.(2014) |
DB-ID |
COQ2_000009 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.73561 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
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Variant on transcripts
Screenings
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