Variant #0000269955 (NC_000019.9:g.33792423G>A, CEBPA(NM_004364.3):c.898C>T)

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33792423G>A
DNA change (hg38) g.33301517G>A
Published as CEBPA(NM_004364.3):c.898C>T (p.R300C)
ISCN -
DB-ID CEBPA_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 ?/. - c.898C>T r.(?) p.(Arg300Cys)