Genomic variant #0000043798

Individual ID 00022268
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_89858879del
DNA change (hg38) g.89792471_89816657del
Published as -
ISCN -
DB-ID FANCA_000620
Variant remarks -
Reference PubMed: Gille 2012, Journal: Gille 2012
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 c.-42-?_1083+?del - r.(?) p.(fs*) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022265 DNA MLPA;SEQ - - FANCA 2 Johan de Winter