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RANGRF

Synonyms
HSPC165, HSPC236, MOG1, RANGNRF
External resources
Summary
This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. 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
8
Likely pathogenic
19
VUS
650
Likely benign
310
Benign
0

Patient Phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on RANGRF gene are displayed below. The following symptoms were found in patients with a variant in RANGRF. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37%
Abnormality of head or neck
29.6%
Abnormality of the eye
29.6%
Abnormality of the musculoskeletal system
25.9%
Abnormality of blood and blood forming tissues
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of limbs
7.4%
Abnormality of the ear
7.4%
Abnormality of the immune system
7.4%
Constitutional symptom
7.4%
Abnormality of metabolism homeostasis
3.7%
Abnormality of the cardiovascular system
3.7%
Abnormality of the digestive system
3.7%
Abnormality of the voice
3.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Growth abnormality
0%
Neoplasm
0%

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