Genomic variant #0000044453

Individual ID 00022272
Chromosome 16
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89883065_89839679del
DNA change (hg38) g.89773271_89816657del
Published as -
ISCN -
DB-ID FANCA_000621 See all 2 reported entries
Variant remarks -
Reference Pallavi Shukla, NIIH
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 c.-42-?_2014+?del - r.(?) p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022269 DNA MLPA - - FANCA 2 Arleen D. Auerbach