Variant #0000000195 (NC_000014.8:g.73685893G>A, PSEN1(NM_000021.3):c.1300G>A)
Individual ID |
00000195 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73685893G>A |
Reference |
Nakaya Y1, Yamane T, Shiraishi H, Wang HQ, Matsubara E, Sato T, Dolios G, Wang R, De Strooper B, Shoji M, Komano H, Yanagisawa K, Ihara Y, Fraser P, St George-Hyslop P, Nishimura M.(2005) |
DB-ID |
PSEN1_000087 See all 4 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 |
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Variant on transcripts
Screenings
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