Variant #0000624870 (NC_000007.13:g.5568296G>C, NM_001101.3:c.418C>G (ACTB))
| Individual ID |
00269871 |
| Chromosome |
7 |
| 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.5568296G>C |
| DNA change (hg38) |
g.5528665G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ACTB_000061 |
| Variant remarks |
ACMG: PM2,PP3; Delayed development, agenesis of corpus callosum, mother: learning disability |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2019-12-10 12:31:05 +01:00 (CET) |
| Date last edited |
2020-03-28 07:06:58 +01:00 (CET) |

Variant on transcripts
Screenings
|