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SREK1IP1

Synonyms
P18SRP, SFRS12IP1
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
6
Likely pathogenic
147
VUS
837
Likely benign
118
Benign
0

Patient phenotypes

Proportions of phenotypes among 153 patients carring pathogenic or likely pathogenic variants on SREK1IP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
32.7%
Abnormality of head or neck
28.1%
Abnormality of the eye
27.5%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
17%
Growth abnormality
17%
Abnormality of the integument
15.7%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
10.5%
Abnormality of the immune system
10.5%
Abnormality of the digestive system
9.8%
Abnormality of the respiratory system
7.2%
Abnormality of the endocrine system
6.5%
Abnormality of blood and blood-forming tissues
4.6%
Abnormality of prenatal development or birth
4.6%
Neoplasm
3.3%
Abnormality of the voice
2%
Abnormal cellular phenotype
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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