Variant #0000269951 (NC_000019.9:g.33793062G>A, CEBPA(NM_004364.3):c.259C>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.33793062G>A
DNA change (hg38) g.33302156G>A
Published as CEBPA(NM_004364.3):c.259C>T (p.Q87*)
ISCN -
DB-ID CEBPA_000011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 ?/. - c.259C>T r.(?) p.(Gln87Ter)