Variant #0000000172 (NC_000014.8:g.73664780C>G, PSEN1(NM_000021.3):c.811C>G)
Individual ID |
00000172 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73664780C>G |
Reference |
Kwok JB1, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR.(2003) |
DB-ID |
PSEN1_000064 See all 3 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 |
![Options](gfx/options_button.png)
Variant on transcripts
Screenings
|
|