Variant #0000692751 (NC_000019.9:g.33792900C>A, CEBPA(NM_004364.3):c.421G>T)

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.33792900C>A
DNA change (hg38) -
Published as CEBPA(NM_001285829.1):c.64G>T (p.G22C), CEBPA(NM_004364.3):c.421G>T (p.G141C)
ISCN -
DB-ID CEBPA_000008 See all 2 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 -?/. - c.421G>T r.(?) p.(Gly141Cys)