Variant #0000000321 (NC_000014.8:g.73664808A>C, PSEN1(NM_000021.3):c.839A>C)
Individual ID |
00000321 |
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 |
Kosik KS1, Mu?oz C2, Lopez L2, Arcila ML2, García G2, Madrigal L2, Moreno S2, Ríos Romenets S2, Lopez H2, Gutierrez M2, Langbaum JB2, Cho W2, Suliman S2, Tariot PN2, Ho C2, Reiman EM2, Lopera F2.(2015) |
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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