Variant #0000345820 (NC_000017.10:g.4806052C>A, NM_000080.3:c.53G>T (CHRNE))
| Chromosome |
17 |
| 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.4806052C>A |
| DNA change (hg38) |
g.4902757C>A |
| Published as |
CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val)) |
| ISCN |
- |
| DB-ID |
C17orf107_000002 See all 3 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) |
0.04882 View details |
| Owner |
VKGL-NL_Nijmegen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Nijmegen |
| Date created |
2018-01-15 20:58:59 +01:00 (CET) |
| Date last edited |
2021-02-08 18:36:18 +01:00 (CET) |

Variant on transcripts
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