Variant #0000001031 (NC_000020.10:g.4680404G>A, PRNP(NM_000311.3):c.538G>A)
Individual ID |
00001031 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.4680404G>A |
Reference |
Qina T1, Sanjo N1, Hizume M1, Higuma M1, Tomita M2, Atarashi R3, Satoh K3, Nozaki I4, Hamaguchi T5, Nakamura Y6, Kobayashi A7, Kitamoto T7, Murayama S8, Murai H9, Yamada M5, Mizusawa H1.(2014) |
DB-ID |
PRNP_000005 See all 8 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-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
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