Variant #0000075733 (NC_000016.9:g.(89869750_89871748)_(89884748_?)del, NM_000135.2:c.-42_(649_710-1){0} (FANCA))
Individual ID |
00021394 |
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.(89869750_89871748)_(89884748_?)del |
DNA change (hg38) |
g.(89803342_89805340)_(898183407_?)del |
Published as |
hg18 88399249-88412249 del13001 |
ISCN |
- |
DB-ID |
FANCA_000710 See all 2 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-NonCommercial-ShareAlike 4.0 International |
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) |

Variant on transcripts
Screenings
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