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ARV1

ARV1 homolog, fatty acid homeostasis modulator

HCNC Approved Symbol
ARV1 (HGNC:29561)
Genomic Coordinates
1:230,979,094 - 231,000,733 (1q42.2)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the ARV1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypotonia
 2 (50.0%)
Seizures
 2 (50.0%)
Anodontia
 1 (25.0%)
Coarse facies
 1 (25.0%)
Hypoplastic labia majora
 1 (25.0%)
ARV1 - Gene browser | 3billion