FANCC |
Gene Facts External Data Attribution
- HGNC Symbol
- FANCC (HGNC:3584) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- FA complementation group C
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- FACC
- Alias symbols
- FAC, FA3
- %HI
- 43.39(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.32
- Genomic Coordinates
-
GRCh37/hg19: chr9:97861336-98079991 NCBI Ensembl UCSC GRCh38/hg38: chr9:95099054-95317709 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000136.3 ENST00000289081.8 (Read more about MANE Select)
- Function
- DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. {ECO:0000269|PubMed:11520787}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4314
ClinGen Curation ID:
CCID:007117
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)