Variant #0000182802 (NC_000017.10:g.62048467A>G, NC_000017.10(NM_000334.4):c.703+55T>C (SCN4A))
Individual ID |
00112805 |
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.62048467A>G |
DNA change (hg38) |
g.63971107A>G |
Published as |
- |
ISCN |
- |
DB-ID |
SCN4A_000099 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs2302236 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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