Variant #0000881121 (NC_000007.13:g.5568167G>A, NM_001101.3:c.547C>T (ACTB))
| Individual ID |
00419458 |
| 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 PS2, PM2, PP2, PP3, PP4, PP5 |
| Reference |
PubMed: Marinakis 2021 |
| ClinVar ID |
- |
| dbSNP ID |
rs104894003 |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Jan Traeger-Synodinos |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-10-20 16:24:48 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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