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KRTAP2-1

Synonyms
KAP2.1A, KRTAP2.1A
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
22
Likely pathogenic
59
VUS
622
Likely benign
424
Benign
0

Patient phenotypes

Proportions of phenotypes among 81 patients carring pathogenic or likely pathogenic variants on KRTAP2-1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
25.9%
Abnormality of head or neck
23.5%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
18.5%
Growth abnormality
16%
Abnormality of limbs
12.3%
Abnormality of the digestive system
12.3%
Abnormality of the integument
12.3%
Abnormality of the genitourinary system
9.9%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the respiratory system
4.9%
Neoplasm
4.9%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
1.2%
Abnormality of the immune system
1.2%
Abnormality of the voice
1.2%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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