Variant #0000692750 (NC_000019.9:g.33792747_33792752dup, CEBPA(NM_004364.3):c.584_589dup)

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.33792747_33792752dup
DNA change (hg38) -
Published as CEBPA(NM_004364.3):c.584_589dupACCCGC (p.H195_P196dup), CEBPA(NM_004364.3):c.589_590insACCCGC (p.(His195_Pro196dup))
ISCN -
DB-ID CEBPA_000019 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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 -/. - c.584_589dup r.(?) p.(His195_Pro196dup)