Genomic variant #0000043313

Individual ID 00022086
Chromosome 3
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.128200072C>T
Reference -
DB-ID GATA2_000031 See all 5 reported entries
dbSNP ID rs34172218
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00102
Allele Count 6
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GATA2 NM_001145661.1 ./. - c.1233G>A r.(=) p.(=)
GATA2 NM_001145662.1 ./. - c.1191G>A r.(=) p.(=)
GATA2 NM_032638.4 ./. - c.1233G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007584 DNA SEQ-NG-I 1 - 55 Stevi Xera