Genomic variant #0000041567

Individual ID 00022035
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.91304428C>A
Reference -
DB-ID BLM_000048 See all 2 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BLM NM_000057.2 ./. - c.1825C>A r.(?) p.(Pro609Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007532 DNA SEQ-NG-I 1 - 41 Stevi Xera