Genomic variant #0000013499

Individual ID 00016684
Chromosome 21
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36259347G>A
Reference -
DB-ID RUNX1_000003 See all 6 reported entries
dbSNP ID rs147889692
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 0.00102
Allele Count 6
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX1 NM_001001890.2 -/- - c.63C>T r.(=) p.(=)
RUNX1 NM_001122607.1 -/- - c.63C>T r.(=) p.(=)
RUNX1 NM_001754.4 -/- - c.144C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000349 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou