Variant #0000043798 (NC_000016.9:g.(89858477_89858878)_(89883065_?)del, NM_000135.2:c.-42_(1083+1_1084-1){0} (FANCA))
Individual ID |
00022268 |
Chromosome |
16 |
Allele |
Parent #1 |
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.(89858477_89858878)_(89883065_?)del |
DNA change (hg38) |
g.(89792069_89792470)_(89816657_?)del |
Published as |
- |
ISCN |
- |
DB-ID |
FANCA_000620 |
Variant remarks |
- |
Reference |
PubMed: Gille 2012, Journal: Gille 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan de Winter |
Database submission license |
No license selected |
Created by |
Johan de Winter |
Date created |
2012-04-08 17:51:59 +02:00 (CEST) |
Date last edited |
2021-12-30 12:21:05 +01:00 (CET) |

Variant on transcripts
Screenings
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