Genomic variant #0000002717

Individual ID 00016310
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.36206680G>A
Reference -
DB-ID RUNX1_000001
dbSNP ID -
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     
RUNX1 NM_001001890.2 ?/? - c.724+27C>T r.(=) p.(=)
RUNX1 NM_001122607.1 ?/? - c.724+27C>T r.(=) p.(=)
RUNX1 NM_001754.4 ?/? - c.805+27C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000066 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou