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
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