Variant #0000872203 (NC_000012.11:g.110841437C>T, NM_016238.2:c.98G>A (ANAPC7))
| Individual ID |
00326917 |
| Chromosome |
12 |
| Allele |
Both (homozygous) |
| 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.110841437C>T |
| DNA change (hg38) |
- |
| Published as |
chr12:109325820C>T |
| ISCN |
- |
| DB-ID |
ANAPC7_000002 |
| Variant remarks |
- |
| Reference |
PubMed: Najmabadi 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.03036 View details |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-07-13 11:09:03 +02:00 (CEST) |
| Date last edited |
2024-12-17 13:14:10 +01:00 (CET) |

Variant on transcripts
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