Genomic variant #0000011985

Individual ID 00016622
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.91308570C>T
Reference -
DB-ID BLM_000015 See all 18 reported entries
dbSNP ID rs146077918
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 0.00313
Allele Count 18
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.2119C>T r.(?) p.(Pro707Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000312 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou