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
RS752465579 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS753512282 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS753750358 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS756650711 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS760291695 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
RS762412096 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS763550734 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS763570868 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS767103109 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, FANCI-related disorder
RS772352819 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS772739034 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS776851666 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS779079622 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS781569040 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
RS886051512 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS933284199 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia complementation group I
RS964069381 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS117921863 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS1195350202 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia, Fanconi anemia complementation group I
RS1198815779 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS1209869642 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1244949795 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1294973649 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1306035407 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1325973604 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1357692627 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS138313760 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1400441798 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
RS1407605188 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1417263841 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1429870785 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1437269265 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
RS1465252834 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1472123387 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS149464307 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia
RS1567142658 Health Risk Likely pathogenic —
RS1567158538 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I, Fanconi anemia
RS1596324325 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group I, Fanconi anemia complementation group A
RS1596343067 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2052801409 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2053064127 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2053066295 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia, Fanconi anemia
RS2053427139 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054196709 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2054462667 Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054480330 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2055026560 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151304648 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151485792 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151551135 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
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