Genomic variant #0000027490

Individual ID 00020632
Chromosome 3
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.128200649G>A
Reference -
DB-ID GATA2_000017
dbSNP ID rs112111696
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GATA2 NM_001145661.1 -?/-? - c.1143+13C>T r.(=) p.(=)
GATA2 NM_001145662.1 -?/-? - c.1101+13C>T r.(=) p.(=)
GATA2 NM_032638.4 -?/-? - c.1143+13C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001427 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou