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ANO7

Synonyms
D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G
External resources
Summary
This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
119
Likely pathogenic
14
VUS
24,327
Likely benign
2,981
Benign
0

Patient Phenotypes

Proportions of phenotypes among 127 patients carrying pathogenic or likely pathogenic variants on ANO7 gene are displayed below. The following symptoms were found in patients with a variant in ANO7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.8%
Abnormality of the musculoskeletal system
41.7%
Abnormality of head or neck
37%
Abnormality of the eye
29.9%
Abnormality of the integument
19.7%
Abnormality of the cardiovascular system
18.9%
Growth abnormality
18.1%
Abnormality of the ear
17.3%
Abnormality of limbs
12.6%
Abnormality of the digestive system
8.7%
Abnormality of the genitourinary system
7.1%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of prenatal development or birth
4.7%
Abnormality of the respiratory system
4.7%
Abnormality of the breast
3.9%
Abnormality of the immune system
3.9%
Abnormality of blood and blood forming tissues
2.4%
Neoplasm
1.6%
Abnormal cellular phenotype
0.8%
Abnormality of the voice
0.8%
Constitutional symptom
0.8%
Abnormality of the thoracic cavity
0%

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