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SYCP1

Synonyms
CT8, HOM-TES-14, SCP-1, SCP1
External resources
Summary
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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
12
Likely pathogenic
12
VUS
15,861
Likely benign
5,775
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on SYCP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of the musculoskeletal system
30.4%
Abnormality of the cardiovascular system
21.7%
Abnormality of the genitourinary system
17.4%
Abnormality of the ear
13%
Abnormality of the eye
13%
Growth abnormality
13%
Abnormality of limbs
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of head or neck
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Neoplasm
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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