Variant #0001046904 (NC_000008.10:g.11395813T>C, NC_000008.10(NM_001715.2):c.-1-4920T>C (BLK))
| Individual ID |
00466039 |
| Chromosome |
8 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.11395813T>C |
| DNA change (hg38) |
g.11538304T>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BLK_000059 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Larry Baum |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Larry Baum |
| Date created |
2025-07-13 09:11:29 +02:00 (CEST) |
| Date last edited |
2025-08-18 14:03:24 +02:00 (CEST) |

Variant on transcripts
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