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DCST1

Synonyms
-
External resources
Summary
This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple 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
16
Likely pathogenic
0
VUS
2,975
Likely benign
680
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on DCST1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
43.8%
Abnormality of the integument
31.3%
Growth abnormality
31.3%
Abnormality of the digestive system
25%
Abnormality of head or neck
18.8%
Abnormality of limbs
18.8%
Abnormality of the ear
18.8%
Abnormality of the eye
18.8%
Abnormality of the genitourinary system
18.8%
Abnormality of the immune system
18.8%
Abnormal cellular phenotype
12.5%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the respiratory system
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the breast
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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