Genomic variant #0000030371

Individual ID 00021899
Chromosome 19
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33792731_33792732insGCGGGT
Reference -
DB-ID CEBPA_000010 See all 3 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00072
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEBPA NM_004364.3 ./. - c.589_590insACCCGC r.(?) p.(His195_Pro196dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001684 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou