Variant #0000000150 (NC_000014.8:g.73659420G>C, PSEN1(NM_000021.3):c.617G>C)
Individual ID |
00000150 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73659420G>C |
Reference |
Athan ES1, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song YQ, Sato C, Kawarai T, Fafel KC, Boss MA, Seltzer WK, Stern Y, St George-Hyslop P, Tycko B(2001) |
DB-ID |
PSEN1_000042 See all 6 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
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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