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RAD9A

Synonyms
RAD9
External resources
Summary
This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
282
Likely pathogenic
0
VUS
5,340
Likely benign
274
Benign
0

Patient phenotypes

Proportions of phenotypes among 233 patients carring pathogenic or likely pathogenic variants on RAD9A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
42.9%
Abnormality of the nervous system
41.2%
Abnormality of the musculoskeletal system
25.8%
Abnormality of head or neck
20.6%
Abnormality of the eye
12.9%
Abnormality of the integument
12.9%
Abnormality of limbs
12%
Abnormality of the genitourinary system
12%
Abnormality of the ear
11.2%
Growth abnormality
8.6%
Abnormality of the digestive system
5.6%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the endocrine system
3.9%
Abnormality of the immune system
3%
Abnormality of the respiratory system
3%
Constitutional symptom
2.6%
Neoplasm
2.6%
Abnormality of prenatal development or birth
1.3%
Abnormal cellular phenotype
0.4%
Abnormality of the breast
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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