Genomic variant #0000043749

Individual ID 00022219
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89883065_89877115del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FANCA_000007 See all 6 reported entries
Variant remarks -
Reference PubMed: Morgan 1999
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 Sue Richards




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FANCA NM_000135.2 +/+ _1_5i c.(?_-1)_522+?del - r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022216 DNA MLPA - - FANCA 2 Sue Richards