Variant #0000000170 (NC_000014.8:g.73664774C>G, PSEN1(NM_000021.3):c.805C>G)
Individual ID |
00000170 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73664774C>G |
Reference |
Perez-Tur J1, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts GW, Lancaster S, Haltia T.(1996) |
DB-ID |
PSEN1_000062 |
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 |
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Variant on transcripts
Screenings
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