Genomic variant #0000024439

Individual ID 00017469
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.58468447A>G
Reference -
DB-ID FANCL_000013 See all 12 reported entries
dbSNP ID rs761291501
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 0.00209
Allele Count 12
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCL NM_001114636.1 +?/+? - c.2T>C r.? p.?
FANCL NM_018062.3 +?/+? - c.2T>C r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001127 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou