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TET1

Synonyms
CXXC6, LCX, bA119F7.1
External resources
Summary
DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation.

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
3
Likely pathogenic
0
VUS
2,859
Likely benign
1,549
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on TET1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the ear
33.3%
Abnormality of the eye
33.3%
Abnormality of the immune system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the nervous 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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