Genomic variant #0000027167

Individual ID 00020102
Chromosome 3
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.128199935G>A
Reference -
DB-ID GATA2_000012 See all 3 reported entries
dbSNP ID rs139415862
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00052
Allele Count 3
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GATA2 NM_001145661.1 ?/? - c.1370C>T r.(?) p.(Thr457Met)
GATA2 NM_001145662.1 ?/? - c.1328C>T r.(?) p.(Thr443Met)
GATA2 NM_032638.4 ?/? - c.1370C>T r.(?) p.(Thr457Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001397 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou