Variant #0000505737 (NC_000001.10:g.227170648C>T, NM_020247.4:c.993C>T (ADCK3))
| 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.227170648C>T |
| DNA change (hg38) |
g.226982947C>T |
| Published as |
COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=) |
| ISCN |
- |
| DB-ID |
ADCK3_000016 See all 6 reported entries |
| 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) |
0.01587 View details |
| Owner |
VKGL-NL_Groningen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Groningen |
| Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
| Date last edited |
2025-02-07 18:57:27 +01:00 (CET) |

Variant on transcripts
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