Variant #0000721946 (NC_000008.10:g.25280706C>G, NM_017634.3:c.*6667G>C (KCTD9))
| Chromosome |
8 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25280706C>G |
| DNA change (hg38) |
- |
| Published as |
GNRH1(NM_000825.3):c.153G>C (p.E51D) |
| ISCN |
- |
| DB-ID |
GNRH1_000002 |
| 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) |
0.00153 View details |
| Owner |
VKGL-NL_Rotterdam |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Rotterdam |
| Date created |
2021-02-08 18:36:18 +01:00 (CET) |
| Date last edited |
2022-05-09 15:51:19 +02:00 (CEST) |

Variant on transcripts
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