Variant #0000182844 (NC_000017.10:g.62049738G>A, NM_000334.4:c.366C>T (SCN4A))
Individual ID |
00112841 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62049738G>A |
DNA change (hg38) |
g.63972378G>A |
Published as |
- |
ISCN |
- |
DB-ID |
SCN4A_000002 See all 16 reported entries |
Variant remarks |
- |
Reference |
Leiden, unpublished |
ClinVar ID |
- |
dbSNP ID |
rs41280108 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.04729 View details |
Owner |
Vincent Janmaat |
Database submission license |
No license selected |
Created by |
Vincent Janmaat |
Date created |
2007-05-21 12:00:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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