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ST6GALNAC6

Synonyms
SIAT7-F, SIAT7F, ST6GALNACVI
External resources
Summary
ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003

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
35
Likely pathogenic
0
VUS
3,329
Likely benign
5
Benign
0

Patient Phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on ST6GALNAC6 gene are displayed below. The following symptoms were found in patients with a variant in ST6GALNAC6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
51.5%
Abnormality of the nervous system
21.2%
Abnormality of metabolism homeostasis
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the musculoskeletal system
15.2%
Abnormality of the cardiovascular system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormality of head or neck
6.1%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
6.1%
Abnormal cellular phenotype
3%
Abnormality of the respiratory system
3%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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