Variant #0000624870 (NC_000007.13:g.5568296G>C, NM_001101.3:c.418C>G (ACTB))
Individual ID |
00269871 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5568296G>C |
DNA change (hg38) |
g.5528665G>C |
Published as |
- |
ISCN |
- |
DB-ID |
ACTB_000061 |
Variant remarks |
ACMG: PM2,PP3; Delayed development, agenesis of corpus callosum, mother: learning disability |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2019-12-10 12:31:05 +01:00 (CET) |
Date last edited |
2020-03-28 07:06:58 +01:00 (CET) |

Variant on transcripts
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