Genomic variant #0000003141

Individual ID 00016335
Chromosome 15
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.91304325A>G
Reference -
DB-ID BLM_000001 See all 33 reported entries
dbSNP ID rs28385011
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00572
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BLM NM_000057.2 ./. - c.1722A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000077 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou