Variant #0000000142 (NC_000014.8:g.73653577T>C, PSEN1(NM_000021.3):c.497T>C)
Individual ID |
00000142 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73653577T>C |
Reference |
Moehlmann T1, Winkler E, Xia X, Edbauer D, Murrell J, Capell A, Kaether C, Zheng H, Ghetti B, Haass C, Steiner H.(2002) |
DB-ID |
PSEN1_000034 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 |
Variant on transcripts
Screenings
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