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CNNM1

Synonyms
ACDP1, CLP-1
External resources
Summary
This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants.

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
13
Likely pathogenic
0
VUS
3,706
Likely benign
1,383
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on CNNM1 gene are displayed below. The following symptoms were found in patients with a variant in CNNM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
50%
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Abnormality of head or neck
16.7%
Abnormality of the immune system
16.7%
Constitutional symptom
16.7%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the musculoskeletal system
8.3%
Abnormality of the respiratory system
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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