Genomic variant #0000031743

Individual ID 00021621
Chromosome 15
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.91347463T>A
Reference -
DB-ID BLM_000004 See all 13 reported entries
dbSNP ID rs1801256
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 0.00226
Allele Count 13
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BLM NM_000057.2 -?/-? - c.3625T>A r.(?) p.(Ser1209Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001814 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou