Genomic variant #0000042030

Individual ID 00022047
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.58388696A>G
Reference -
DB-ID FANCL_000048 See all 65 reported entries
dbSNP ID rs848291
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 0.01492
Allele Count 88
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCL NM_001114636.1 ./. - c.996T>C r.(=) p.(=)
FANCL NM_018062.3 ./. - c.981T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007544 DNA SEQ-NG-I 1 - 44 Stevi Xera