Variant #0000973600 (NC_000001.10:g.20976940G>A, NM_032409.2:c.1502G>A (PINK1))
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.20976940G>A |
DNA change (hg38) |
- |
Published as |
PINK1(NM_032409.3):c.1502G>A (p.R501Q) |
ISCN |
- |
DB-ID |
DDOST_000007 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0025 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2024-04-19 20:20:39 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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