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 International |
| 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) |

Variant on transcripts
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