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MCRS1

Synonyms
ICP22BP, INO80Q, MCRS2, MSP58, P78
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
12
Likely pathogenic
0
VUS
2,369
Likely benign
557
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on MCRS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
36.4%
Abnormality of the nervous system
36.4%
Growth abnormality
27.3%
Abnormality of the ear
18.2%
Abnormality of the eye
18.2%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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