Variant #0000179033 (NC_000007.13:g.5568804C>A, NM_001101.3:c.351G>T (ACTB))
| Individual ID |
00111411 |
| Chromosome |
7 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5568804C>A |
| DNA change (hg38) |
g.5529173C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ACTB_000009 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Bernt Popp |
| Database submission license |
No license selected |
| Created by |
Bernt Popp |
| Date created |
2017-08-03 07:43:05 +02:00 (CEST) |
| Date last edited |
2017-08-04 11:09:40 +02:00 (CEST) |

Variant on transcripts
Screenings
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