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EHBP1

Synonyms
HPC12, NACSIN
External resources
Summary
This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants.

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
14
Likely pathogenic
0
VUS
1,376
Likely benign
3,768
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on EHBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.6%
Abnormality of the musculoskeletal system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the eye
27.3%
Abnormality of blood and blood-forming tissues
18.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the digestive system
18.2%
Abnormality of the genitourinary system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the ear
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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