Variant #0000075845 (NC_000009.11:g.98006631_98010418delinsAAAAAGTAAATTTAGTT, NC_000009.11(NM_000136.2):c.166-620_250+3083delinsAACTAAATTTACTTTTT (FANCC))
Individual ID |
00020322 |
Chromosome |
9 |
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.98006631_98010418delinsAAAAAGTAAATTTAGTT |
DNA change (hg38) |
g.95244349_95248136delinsAAAAAGTAAATTTAGTT |
Published as |
hg18 97046452-97050240 insAAAAAGTAAATTTAGTTA del3789 |
ISCN |
- |
DB-ID |
FANCC_000069 See all 8 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 15:32:06 +01:00 (CET) |

Variant on transcripts
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