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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