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CHAF1A

Synonyms
CAF-1, CAF1, CAF1B, CAF1P150, P150
External resources
Summary
Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
4,955
Likely benign
4,730
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on CHAF1A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
100%
Abnormality of the eye
66.7%
Abnormality of the musculoskeletal system
66.7%
Growth abnormality
66.7%
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of head or neck
33.3%
Abnormality of prenatal development or birth
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the ear
33.3%
Abnormality of the integument
33.3%
Abnormality of the nervous system
33.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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