FANCI Chromosome 15

FA complementation group I
283 variants 283 Health Risk

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What This Gene Does
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
FA complementation groups
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140525
Associated Conditions (15)
Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder
Gastric cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Fanconi anemia complementation group A
Neoplasm
Colorectal cancer
Key Variants
RS116380142
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS1173483373
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS121918163
Conflicting classifications of pathogenicity
Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
Health Risk
RS1275616370
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
Health Risk
RS1317953100
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS138026584
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS142906652
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
Health Risk
RS1434575390
Conflicting classifications of pathogenicity
Health Risk
RS1443770274
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1448880215
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS144908351
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS145165730
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Gastric cancer
Health Risk
All Variants (283)
RSID Category Clinical Significance Conditions
RS2151913256 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2151940628 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505401937 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505814781 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505880000 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505904065 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505906188 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505907513 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505910980 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505951722 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505968895 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505983529 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505983816 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506072003 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2506220779 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506226146 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506231338 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506447938 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506453150 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506456334 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2506599338 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2506800550 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506961673 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506961955 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
RS2507055972 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507356114 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507391791 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507392821 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507394599 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507395267 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507400397 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507402611 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2507438903 Health Risk Likely pathogenic Fanconi anemia, Neoplasm, Fanconi anemia
RS2507512023 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507514974 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507839621 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507880932 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507933457 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507936447 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507937769 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2508460975 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2508599743 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2508879017 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509016110 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509016412 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509077600 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS745324944 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS745893292 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS747291682 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS749802895 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
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