Genomic variant #0000075835

Individual ID 00046977
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89872600_89883065del
DNA change (hg38) -
Published as g.88400101_88419559del19459
ISCN -
DB-ID FANCA_000713
Variant remarks -
Reference PubMed: Flynn EK 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Arleen D. Auerbach




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FANCA NM_000135.2 +/+ _1_6i c.(?_-42)_597-800del - r.? p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047087 DNA arrayCGH; PCR - - FANCA 1 Arleen D. Auerbach