Genomic variant #0000043219

Individual ID 00021690
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89883065_89805009del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FANCA_000008 See all 13 reported entries
Variant remarks -
Reference PubMed: Chandra 2005
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 Arleen D. Auerbach




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FANCA NM_000135.2 ?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000021687 DNA SEQ - - FANCA 1 Arleen D. Auerbach