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TTC38

Synonyms
LL22NC03-5H6.5
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
26
Likely pathogenic
213
VUS
8,966
Likely benign
381
Benign
0

Patient phenotypes

Proportions of phenotypes among 239 patients carring pathogenic or likely pathogenic variants on TTC38 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.6%
Abnormality of the ear
23.4%
Abnormality of the musculoskeletal system
18.8%
Abnormality of head or neck
18.4%
Abnormality of the cardiovascular system
18%
Abnormality of the eye
16.3%
Growth abnormality
12.6%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
6.7%
Abnormality of the digestive system
5.9%
Abnormality of the immune system
5.4%
Abnormality of limbs
4.2%
Abnormality of prenatal development or birth
1.7%
Neoplasm
1.7%
Abnormal cellular phenotype
1.3%
Abnormality of the respiratory system
1.3%
Constitutional symptom
1.3%
Abnormality of the endocrine system
0.8%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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