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RAB27A

Synonyms
GS2, HsT18676, RAB27, RAM
External resources
Summary
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
6
VUS
718
Likely benign
1,369
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on RAB27A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of the ear
20%
Abnormality of the musculoskeletal system
20%
Abnormality of prenatal development or birth
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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