RIMS1

RIMS1

regulating synaptic membrane exocytosis 1

HCNC Approved Symbol: RIMS1 (HGNC:17282)
Genomic Coordinates: 6:71,886,550 - 72,403,145 (6q13)
Synonyms: RIM, KIAA0340, RIM1, RAB3IP2, CORD7
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the RIMS1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Abnormality of vision: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Macular dystrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Vision issue: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30