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RCCD1

Synonyms
-
External resources

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
17
Likely pathogenic
0
VUS
1,004
Likely benign
1,405
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on RCCD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.5%
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
31.3%
Growth abnormality
25%
Abnormality of blood and blood-forming tissues
18.8%
Abnormality of limbs
18.8%
Abnormality of the digestive system
18.8%
Abnormality of head or neck
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the ear
6.3%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
6.3%
Constitutional symptom
6.3%
Abnormal cellular phenotype
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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