Variant #0000000606 (NC_000003.11:g.87302948A>C, CHMP2B(NM_014043.3):c.618A>C)
Individual ID |
00000606 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.87302948A>C |
Reference |
Parkinson N1, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium.(2006) |
DB-ID |
CHMP2B_000002 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0 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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