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SLC50A1

Synonyms
HsSWEET1, RAG1AP1, SCP, SWEET1, slv
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
18
Likely pathogenic
4
VUS
4,676
Likely benign
24
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on SLC50A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
54.5%
Abnormality of the nervous system
45.5%
Abnormality of head or neck
31.8%
Abnormality of limbs
27.3%
Abnormality of the eye
22.7%
Abnormality of blood and blood-forming tissues
13.6%
Abnormality of the integument
13.6%
Abnormality of the ear
9.1%
Growth abnormality
9.1%
Neoplasm
9.1%
Abnormality of prenatal development or birth
4.5%
Abnormality of the breast
4.5%
Abnormality of the cardiovascular system
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the voice
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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