Variant #0000000257 (NC_000014.8:g.73664808A>C, PSEN1(NM_000021.3):c.839A>C)
Individual ID |
00000257 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73664808A>C |
Reference |
Ryman DC1, Acosta-Baena N2, Aisen PS2, Bird T2, Danek A2, Fox NC2, Goate A2, Frommelt P2, Ghetti B2, Langbaum JB2, Lopera F2, Martins R2, Masters CL2, Mayeux RP2, McDade E2(2014) |
DB-ID |
PSEN1_000067 See all 12 reported entries |
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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