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MCUR1

Synonyms
C6orf79, CCDC90A, FMP32
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
0
VUS
2,095
Likely benign
27
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on MCUR1 gene are displayed below. The following symptoms were found in patients with a variant in MCUR1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the digestive system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of blood and blood forming tissues
33.3%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of limbs
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the immune system
16.7%
Abnormality of the respiratory system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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