Variant #0000569396 (NC_000020.10:g.32000520G>C, NM_003098.2:c.770C>G (SNTA1))
Chromosome |
20 |
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.32000520G>C |
DNA change (hg38) |
g.33412714G>C |
Published as |
SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G) |
ISCN |
- |
DB-ID |
SNTA1_000007 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) |
0.00177 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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