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SSPN

Synonyms
DAGA5, KRAG, NSPN, SPN1, SPN2
External resources
Summary
This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described.

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
4,105
Likely benign
1,096
Benign
0

Patient phenotypes

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

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

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