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CD34

Synonyms
-
External resources
Summary
The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. 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
45
Likely pathogenic
19
VUS
2,670
Likely benign
180
Benign
0

Patient phenotypes

Proportions of phenotypes among 64 patients carring pathogenic or likely pathogenic variants on CD34 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.3%
Abnormality of head or neck
18.8%
Abnormality of the eye
17.2%
Abnormality of the musculoskeletal system
17.2%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the ear
12.5%
Growth abnormality
12.5%
Abnormality of the genitourinary system
9.4%
Abnormality of the cardiovascular system
7.8%
Abnormality of the digestive system
3.1%
Abnormality of limbs
1.6%
Abnormality of prenatal development or birth
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the immune system
1.6%
Abnormality of the integument
1.6%
Abnormality of the respiratory system
1.6%
Neoplasm
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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