Home > Gene Browser > HSP90AA1

HSP90AA1

Synonyms
EL52, HEL-S-65p, HSP86, HSP89A, HSP90A, HSP90N, HSPC1, HSPCA, HSPCAL1, HSPCAL4, HSPN, Hsp103, Hsp89, Hsp90, LAP-2, LAP2
External resources
Summary
The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene.

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
9
Likely pathogenic
0
VUS
2,797
Likely benign
772
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on HSP90AA1 gene are displayed below. The following symptoms were found in patients with a variant in HSP90AA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
88.9%
Abnormality of head or neck
55.6%
Abnormality of the musculoskeletal system
55.6%
Abnormality of prenatal development or birth
22.2%
Abnormality of the ear
22.2%
Abnormality of the eye
22.2%
Growth abnormality
22.2%
Abnormality of the digestive system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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