Variant #0000001757 (NC_000001.10:g.161276512T>G, MPZ(NM_000530.6):c.434A>C)
Individual ID |
00001757 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.161276512T>G |
Reference |
Leal A1, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schl?tzer-Schrehardt U, Neund?rfer B, Reis A, Rautenstrauss B, Heuss D.(2003) |
DB-ID |
MPZ_000025 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|