Variant #0000075804 (NC_000016.9:g.89808983_89886611del, NC_000016.9(NM_000135.2):c.-42_3765+225del (FANCA))

Individual ID 00022123
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.89808983_89886611del
DNA change (hg38) g.89742575_89820203del
Published as hg18 88336484-88414112 del77629
ISCN -
DB-ID FANCA_000695
Variant remarks -
Reference PubMed: Flynn 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-08-03 18:06:43 +02:00 (CEST)
Date last edited 2021-12-30 17:05:33 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCA NM_000135.2 +/+ _1_37i c.-42_3765+225del r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047179 DNA arrayCGH; PCR - - FANCA 1 Arleen D. Auerbach


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