Variant #0000519568 (NC_000003.11:g.38674747G>A, NM_198056.2:c.52C>T (SCN5A))
Chromosome |
3 |
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.38674747G>A |
DNA change (hg38) |
g.38633256G>A |
Published as |
SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... |
ISCN |
- |
DB-ID |
SCN5A_000890 See all 7 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) |
0.00026 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2024-08-28 13:16:32 +02:00 (CEST) |

Variant on transcripts
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