Variant #0000642768 (NC_000007.13:g.5568935C>T, NM_001101.3:c.220G>A (ACTB))
Individual ID |
00285871 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5568935C>T |
DNA change (hg38) |
g.5529304C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ACTB_000063 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Verloes 2015 |
ClinVar ID |
ClinVar-SCV000148636 |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
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 |
2020-02-08 17:03:12 +01:00 (CET) |
Date last edited |
2021-03-17 12:57:50 +01:00 (CET) |

Variant on transcripts
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