Genomic variant #0000026929

Individual ID 00020719
Chromosome 21
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.36164862G>A
Reference -
DB-ID RUNX1_000020
dbSNP ID rs1273605678
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX1 NM_001001890.2 ?/? - c.932C>T r.(?) p.(Ala311Val)
RUNX1 NM_001754.4 ?/? - c.1013C>T r.(?) p.(Ala338Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001376 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou