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RETREG1

Synonyms
FAM134B, JK-1, JK1
External resources
Summary
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
0
Likely pathogenic
0
VUS
766
Likely benign
1,163
Benign
9

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on RETREG1 gene.

Phenotype class
Patients in 3billion (%)

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