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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

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
0
VUS
3,862
Likely benign
926
Benign
0

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on CHAF1A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
100%
Abnormality of head or neck
50%
Abnormality of prenatal development or birth
50%
Abnormality of the digestive system
50%
Abnormality of the ear
50%
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Growth abnormality
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 integument
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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