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KRTAP2-3

Synonyms
KAP2.3, KAP2.4, KRTAP2-4, KRTAP2.3, KRTAP2.4
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
2
Likely pathogenic
184
VUS
2,722
Likely benign
387
Benign
0

Patient phenotypes

Proportions of phenotypes among 174 patients carring pathogenic or likely pathogenic variants on KRTAP2-3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.7%
Abnormality of the musculoskeletal system
39.7%
Abnormality of head or neck
28.2%
Abnormality of the cardiovascular system
24.7%
Abnormality of the ear
21.3%
Abnormality of the eye
16.7%
Growth abnormality
14.4%
Abnormality of limbs
10.9%
Abnormality of the genitourinary system
9.8%
Abnormality of the integument
9.8%
Abnormality of the digestive system
9.2%
Abnormality of the respiratory system
8%
Abnormality of the immune system
7.5%
Abnormality of prenatal development or birth
5.2%
Abnormality of the endocrine system
5.2%
Neoplasm
4.6%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the breast
1.1%
Abnormal cellular phenotype
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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