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HS1BP3

Synonyms
ETM2, HS1-BP3
External resources
Summary
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation.

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
30
Likely pathogenic
4
VUS
2,416
Likely benign
35
Benign
0

Patient Phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on HS1BP3 gene are displayed below. The following symptoms were found in patients with a variant in HS1BP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.5%
Abnormality of the cardiovascular system
27.3%
Abnormality of head or neck
21.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of the ear
15.2%
Abnormality of the eye
12.1%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of limbs
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormality of prenatal development or birth
6.1%
Abnormality of the digestive system
6.1%
Growth abnormality
6.1%
Abnormality of metabolism homeostasis
3%
Abnormality of the immune system
3%
Abnormality of the respiratory system
3%
Constitutional symptom
3%
Neoplasm
3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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