CENPF Chromosome 1

Centromere protein F

71 variants 71 Health Risk

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What This Gene Does

This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

Associated Conditions (6)

CENPF-related disorder

Inborn genetic diseases

Stromme syndrome

Cystinuria

Primary ciliary dyskinesia 29

Neurodevelopmental delay

Key Variants

RS114218080

Conflicting classifications of pathogenicity

Health Risk

RS138428805

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS140375946

Conflicting classifications of pathogenicity

Health Risk

RS141472136

Conflicting classifications of pathogenicity

Health Risk

RS141620633

Conflicting classifications of pathogenicity

Inborn genetic diseases, CENPF-related disorder, Inborn genetic diseases

Health Risk

RS142605836

Conflicting classifications of pathogenicity

Health Risk

RS142984971

Conflicting classifications of pathogenicity

Inborn genetic diseases, CENPF-related disorder, Inborn genetic diseases

Health Risk

RS142993088

Conflicting classifications of pathogenicity

Health Risk

RS144237457

Conflicting classifications of pathogenicity

Stromme syndrome, Stromme syndrome

Health Risk

RS145589304

Conflicting classifications of pathogenicity

Health Risk

RS147738481

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS147776688

Conflicting classifications of pathogenicity

Inborn genetic diseases, CENPF-related disorder, Stromme syndrome

Health Risk

All Variants (71)

RSID	Category	Clinical Significance	Conditions
RS779120472	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS779235200	Health Risk	Likely pathogenic	—
RS869312748	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS1277223368	Health Risk	Pathogenic	—
RS199800194	Health Risk	Pathogenic	—
RS200976140	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS2102419503	Health Risk	Pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2102564388	Health Risk	Pathogenic	—
RS2528400662	Health Risk	Pathogenic	—
RS2528427978	Health Risk	Pathogenic	—
RS367624766	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS375722599	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS376767238	Health Risk	Pathogenic	Stromme syndrome, CENPF-related disorder, Stromme syndrome
RS749388407	Health Risk	Pathogenic	—
RS757531591	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS757575602	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS786205697	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS886041436	Health Risk	Pathogenic	Stromme syndrome, Stromme syndrome
RS1064795215	Health Risk	Pathogenic/Likely pathogenic	Stromme syndrome, Stromme syndrome
RS375014198	Health Risk	Pathogenic/Likely pathogenic	Stromme syndrome, Neurodevelopmental delay, Stromme syndrome
RS376076886	Health Risk	Pathogenic/Likely pathogenic	Stromme syndrome, Stromme syndrome

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