Variant #0000681362 (NC_000019.9:g.33792919C>T, CEBPA(NM_004364.3):c.402G>A)

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.33792919C>T
DNA change (hg38) -
Published as CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.3):c.402G>A (p.A134=)
ISCN -
DB-ID CEBPA_000009 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) 0.00191 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 -?/. - c.402G>A r.(?) p.(Ala134=)