Variant #0001027208 (NC_000019.9:g.33792748G>A, NM_004364.3:c.573C>T (CEBPA))
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33792748G>A |
DNA change (hg38) |
- |
Published as |
CEBPA(NM_001285829.1):c.216C>T (p.(His72=)), CEBPA(NM_004364.3):c.573C>T (p.H191=), CEBPA(NM_004364.5):c.573C>T (p.H191=) |
ISCN |
- |
DB-ID |
CEBPA_000007 See all 3 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2025-02-07 18:57:27 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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