Variant #0000001716 (NC_000017.10:g.15134364G>A, PMP22(NM_000304.3):c.353C>T)
Individual ID |
00001716 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15134364G>A |
Reference |
Roa BB1, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR.(1993) |
DB-ID |
PMP22_000003 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00403 View details |
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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