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
RS114218080	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, Inborn genetic diseases, CENPF-related disorder
RS138428805	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS140375946	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, Inborn genetic diseases, CENPF-related disorder
RS141472136	Health Risk	Conflicting classifications of pathogenicity	—
RS141620633	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, CENPF-related disorder, Inborn genetic diseases
RS142605836	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, Inborn genetic diseases, CENPF-related disorder
RS142984971	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, CENPF-related disorder, Inborn genetic diseases
RS142993088	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, CENPF-related disorder
RS144237457	Health Risk	Conflicting classifications of pathogenicity	Stromme syndrome, Stromme syndrome
RS145589304	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, CENPF-related disorder
RS147738481	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS147776688	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, CENPF-related disorder, Stromme syndrome
RS148517685	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS149416779	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS199813442	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS200341117	Health Risk	Conflicting classifications of pathogenicity	—
RS202092147	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS373295400	Health Risk	Conflicting classifications of pathogenicity	Stromme syndrome, CENPF-related disorder, Stromme syndrome
RS3748694	Health Risk	Conflicting classifications of pathogenicity	Stromme syndrome, Stromme syndrome
RS41277190	Health Risk	Conflicting classifications of pathogenicity	—
RS538628701	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS62000407	Health Risk	Conflicting classifications of pathogenicity	CENPF-related disorder, CENPF-related disorder
RS6697155	Health Risk	Conflicting classifications of pathogenicity	—
RS747802606	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS75093097	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS7544538	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, CENPF-related disorder, Stromme syndrome
RS766816759	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS772892382	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS941349850	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1362606570	Health Risk	Likely pathogenic	—
RS141352776	Health Risk	Likely pathogenic	—
RS1553288555	Health Risk	Likely pathogenic	—
RS1553290222	Health Risk	Likely pathogenic	—
RS1558184644	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS1558191518	Health Risk	Likely pathogenic	—
RS1571706279	Health Risk	Likely pathogenic	—
RS1571707321	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS1657525413	Health Risk	Likely pathogenic	Cystinuria, Cystinuria
RS1657782821	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS1658106325	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS2102414095	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS2102566615	Health Risk	Likely pathogenic	—
RS2102566666	Health Risk	Likely pathogenic	—
RS2528397182	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS2528401856	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS2528434640	Health Risk	Likely pathogenic	Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS564687150	Health Risk	Likely pathogenic	—
RS767901194	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome
RS769251374	Health Risk	Likely pathogenic	—
RS776697039	Health Risk	Likely pathogenic	Stromme syndrome, Stromme syndrome

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