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KPNA7

Synonyms
IPOA8
External resources
Summary
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5.

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
29
Likely pathogenic
0
VUS
4,077
Likely benign
967
Benign
42

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on KPNA7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the musculoskeletal system
31%
Abnormality of head or neck
24.1%
Abnormality of the cardiovascular system
20.7%
Abnormality of the ear
20.7%
Abnormality of the eye
20.7%
Abnormality of the genitourinary system
17.2%
Abnormality of limbs
13.8%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Neoplasm
6.9%
Abnormality of the breast
3.4%
Abnormality of the digestive system
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the immune system
3.4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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