Variant #0000620701 (NC_000001.10:g.8045046A>G, PARK7(NM_007262.4):c.502A>G)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.8045046A>G |
DNA change (hg38) |
g.7984986A>G |
Published as |
PARK7(NM_007262.4):c.502A>G (p.I168V) |
ISCN |
- |
DB-ID |
PARK7_000046 |
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) |
2.0E-5 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-12-06 12:43:26 +01:00 (CET) |
Date last edited |
2020-10-02 15:50:48 +02:00 (CEST) |

Variant on transcripts
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