Genomic variant #0000043542

Individual ID 00022012
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89883065_89818546del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FANCA_000003 See all 4 reported entries
Variant remarks See FANCA_00006 (Wijker et al, 1999)
Reference PubMed: Ameziane 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan de Winter




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FANCA NM_000135.2 +/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022009 DNA SEQ - - FANCA 2 Johan de Winter