Variant #0000001747 (NC_000001.10:g.161276575G>A, MPZ(NM_000530.6):c.371C>T)
Individual ID |
00001747 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.161276575G>A |
Reference |
De Jonghe P1, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, L?fgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C.(1999) |
DB-ID |
MPZ_000015 |
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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