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ECD

Synonyms
GCR2, HSGT1, SGT1
External resources

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
5
Likely pathogenic
0
VUS
11,933
Likely benign
5,088
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on ECD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
60%
Abnormality of blood and blood-forming tissues
40%
Abnormal cellular phenotype
20%
Abnormality of the nervous system
20%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
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 musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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