Variant #0000922494 (NC_000007.13:g.5568167G>A, NM_001101.3:c.547C>T (ACTB))
| Individual ID |
00434663 |
| Chromosome |
7 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (dominant) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5568167G>A |
| DNA change (hg38) |
g.5528536G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ACTB_000005 See all 9 reported entries |
| Variant remarks |
ACMG PS1, PS2, PM2, PP4 |
| Reference |
PubMed: Chen 2022 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-04-07 12:06:06 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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