Genomic variant #0000043016

Individual ID 00021487
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.89805008_89883024del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FANCA_000000 See all 6 reported entries
Variant remarks range of deletion undefined
Reference -
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     
0000021484 DNA SEQ - - FANCA 2 Arleen D. Auerbach