Variant #0000002580 (NC_000001.10:g.40558181T>C, PPT1(NM_000310.3):c.125-2A>G)
Individual ID |
00002580 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.40558181T>C |
Reference |
Salonen et al. Hum Mut 15: 273-279 2000 |
DB-ID |
PPT1_000006 |
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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