Variant #0000182826 (NC_000017.10:g.62049235A>G, NC_000017.10(NM_000334.4):c.483-25T>C (SCN4A))
Individual ID |
00112803 |
Chromosome |
17 |
Allele |
Parent #1 |
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.62049235A>G |
DNA change (hg38) |
g.63971875A>G |
Published as |
- |
ISCN |
- |
DB-ID |
SCN4A_000098 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs9892013 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.98771 View details |
Owner |
Birgit Neitzel |
Database submission license |
No license selected |
Created by |
Birgit Neitzel |
Date created |
2009-10-30 18:10:28 +01:00 (CET) |
Date last edited |
2009-11-05 16:33:43 +01:00 (CET) |

Variant on transcripts
Screenings
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