FANCA
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FANCA (HGNC:3582) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FA complementation group A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FACA, FANCH
Alias symbols
FAA, FA-H, FAH
%HI
82.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.35(Read more about gnomAD LOEUF score)
Cytoband
16q24.3
Genomic Coordinates
GRCh37/hg19: chr16:89803957-89883055 NCBI Ensembl UCSC
GRCh38/hg38: chr16:89737549-89816647 NCBI Ensembl UCSC
MANE Select Transcript
NM_000135.4 ENST00000389301.8 (Read more about MANE Select)
Function
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27811
ClinGen Curation ID:
CCID:007115
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/11/2023

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Fanconi anemia complementation group A Monarch
HI Evidence Comments:
Biallelic likely pathogenic and pathogenic variants in the FANCA gene cause Fanconi anemia (FA), an autosomal recessive disorder, which is a clinically heterogenous condition associated with congenital and developmental abnormalities, progressive bone-marrow failure, as well as predisposition to leukemia and solid tumors. The FANCA gene is located on chromosome 16q24.3. There is a high prevalence of large intragenic deletions reported in the literature.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature identified.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)