Variant #0000043802 (NC_000016.9:g.(89838223_89839678)_(89883065_?)del, NM_000135.2:c.-42_(2014+1_2015-1){0} (FANCA))
Individual ID |
00022272 |
Chromosome |
16 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(89838223_89839678)_(89883065_?)del |
DNA change (hg38) |
g.(89771815_89773270)_(89816657_?)del |
Published as |
- |
ISCN |
- |
DB-ID |
FANCA_000621 See all 2 reported entries |
Variant remarks |
- |
Reference |
Pallavi Shukla, NIIH |
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 |
No license selected |
Created by |
Arleen D. Auerbach |
Date created |
2012-06-01 05:29:47 +02:00 (CEST) |
Date last edited |
2021-12-30 12:22:31 +01:00 (CET) |

Variant on transcripts
Screenings
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