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AHCTF1

Synonyms
ELYS, MST108, MSTP108, TMBS62
External resources
Summary
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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
7
Likely pathogenic
31
VUS
13,881
Likely benign
11,479
Benign
0

Patient phenotypes

Proportions of phenotypes among 36 patients carrying pathogenic or likely pathogenic variants on AHCTF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the integument
16.7%
Abnormality of head or neck
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Abnormality of the endocrine system
8.3%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the ear
5.6%
Abnormality of the genitourinary system
5.6%
Abnormal cellular phenotype
2.8%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of limbs
2.8%
Abnormality of prenatal development or birth
2.8%
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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