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SH3D21

Synonyms
C1orf113
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
25
Likely pathogenic
0
VUS
2,687
Likely benign
385
Benign
0

Patient Phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on SH3D21 gene are displayed below. The following symptoms were found in patients with a variant in SH3D21. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
24%
Abnormality of the musculoskeletal system
20%
Neoplasm
20%
Abnormality of the cardiovascular system
12%
Abnormality of the digestive system
12%
Abnormality of the nervous system
12%
Abnormality of prenatal development or birth
8%
Abnormality of the ear
8%
Abnormality of the genitourinary system
8%
Abnormality of the integument
8%
Abnormality of head or neck
4%
Abnormality of limbs
4%
Abnormality of metabolism homeostasis
4%
Abnormality of the respiratory system
4%
Constitutional symptom
4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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