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
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