Variant #0000044246 (NC_000016.9:g.(89825114_89828356)_(89883065_?)del, NM_000135.2:c.-42_(2852+1_2853-1){0} (FANCA))

Individual ID 00022053
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(89825114_89828356)_(89883065_?)del
DNA change (hg38) g.(89758706_89761948)_(89816657_?)del
Published as -
ISCN -
DB-ID FANCA_000468 See all 2 reported entries
Variant remarks -
Reference OHSU
ClinVar ID -
dbSNP ID -
Origin Germline
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 Johan den Dunnen
Date created 2008-09-05 22:16:14 +02:00 (CEST)
Date last edited 2021-12-30 12:19:59 +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_29i c.-42_(2852+1_2853-1){0} r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022050 DNA SEQ; MLPA - - FANCA 2 Arleen D. Auerbach


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