Genomic variant #0000002197

Individual ID 00016277
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.58386928_58386929insTAAT
Reference -
DB-ID FANCL_000006 See all 6 reported entries
dbSNP ID -
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 0.00104
Allele Count 6
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.1114_1115insATTA r.(?) p.(Thr372Asnfs*13)
FANCL NM_018062.3 +/+ - c.1099_1100insATTA r.(?) p.(Thr367Asnfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000054 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou