Variant #0000000887 (NC_000005.9:g.60183311_60194146del279, ERCC8(NM_000082.3):c.800_1078del279)
Individual ID |
00000887 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.60183311_60194146del279 |
Reference |
Henning KA1, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.(1995) |
DB-ID |
ERCC8_000020 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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