Variant #0000006389 (NC_000010.10:g.13154564G>A, OPTN(NM_021980.4):c.481G>A)
Individual ID |
00006401 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.13154564G>A |
Reference |
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, Sohei Yoshida, Yasumasa Kokubo, Shigeki Kuzuhara, Hiroyuki Ishiura, Masaharu Amagasa, Shigeo Murayama, Shoji Tsuji, Jun Goto (2012) |
DB-ID |
OPTN_000017 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
XY Liu |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
XY Liu |
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Gene |
OPTN |
Transcript ID |
NM_021980.4 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Exon |
4 |
DNA change (cDNA) |
c.481G>A |
RNA change |
r.(?) |
Protein |
p.(Val161Met) |
Variant on transcripts
Screenings
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