Variant #0000578156 (NC_000002.11:g.58386930_58386933dup, FANCL(NM_018062.3):c.1096_1099dup)

Individual ID 00248282
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.58386930_58386933dup
DNA change (hg38) g.58159795_58159798dup
Published as 1096_1099dupATTA
ISCN -
DB-ID FANCL_000003 See all 12 reported entries
Variant remarks -
Reference PubMed: Lhota 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Zdenek Kleibl
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
VRK2 NM_006296.5 +?/. - c.*101_*104dup r.(=) p.(=) -
FANCL NM_018062.3 +?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249387 DNA SEQ-NG-S blood 581 gene panel - 2 Zdenek Kleibl