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KRTAP2-2

Synonyms
KAP2.1, KAP2.2, KRTAP2-1, KRTAP2.1A, KRTAP2.1B
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
347
Likely pathogenic
1,230
VUS
4,568
Likely benign
1,398
Benign
0

Patient phenotypes

Proportions of phenotypes among 907 patients carring pathogenic or likely pathogenic variants on KRTAP2-2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
37.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of head or neck
19.4%
Abnormality of the cardiovascular system
14.2%
Abnormality of the ear
11.9%
Growth abnormality
11.6%
Abnormality of the integument
11.1%
Abnormality of the genitourinary system
8.3%
Abnormality of limbs
7.2%
Abnormality of the immune system
6.9%
Abnormality of the digestive system
6.2%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3%
Abnormality of prenatal development or birth
2.6%
Neoplasm
2.3%
Constitutional symptom
1.7%
Abnormal cellular phenotype
1.2%
Abnormality of the voice
0.4%
Abnormality of the breast
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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