Variant #0000791037 (NC_000022.10:g.38379673G>T, NM_006941.3:c.119C>A (SOX10))
| Individual ID |
00377111 |
| Chromosome |
22 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38379673G>T |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SOX10_000148 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Gunnar Schmidt |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Gunnar Schmidt |
| Date created |
2021-07-05 14:05:01 +02:00 (CEST) |
| Date last edited |
2021-07-07 21:33:16 +02:00 (CEST) |

Variant on transcripts
Screenings
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