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SCAMP3

Synonyms
C1orf3
External resources
Summary
This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.

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
6
Likely pathogenic
0
VUS
2,362
Likely benign
161
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on SCAMP3 gene are displayed below. The following symptoms were found in patients with a variant in SCAMP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Growth abnormality
33.3%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the ear
16.7%
Abnormality of the immune system
16.7%
Abnormality of the respiratory system
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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