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TTYH3

Synonyms
-
External resources
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
4,587
Likely benign
3,575
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on TTYH3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the ear
30%
Growth abnormality
30%
Abnormality of the cardiovascular system
20%
Abnormality of the eye
20%
Abnormality of limbs
10%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the endocrine system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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