Variant #0000075827 (NC_000016.9:g.(89851373_89855998)_(89909998_?)del, NM_000135.2:c.-42_(1359+1813_1360-1){0} (FANCA))

Individual ID 00046971
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.(89851373_89855998)_(89909998_?)del
DNA change (hg38) g.(89784965_89789590)_(89843590_?)del
Published as hg18 88383499-88437499 del54001
ISCN -
DB-ID FANCA_000025 See all 3 reported entries
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 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_14i c.-42_(1359+1813_1360-1){0} r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047081 DNA arrayCGH - - FANCA 1 Arleen D. Auerbach


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