RCBTB1 - Gene browser | 3billion

RCBTB1

RCBTB1

RCC1 and BTB domain containing protein 1

HCNC Approved Symbol: RCBTB1 (HGNC:18243)
Genomic Coordinates: 13:49,531,946 - 49,585,558 (13q14.2)
Synonyms: FLJ10716, CLLD7, CLLL7
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the RCBTB1 gene.

Frequently observed phenotypes(Top 5 only)

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

06
Patient count

Retinitis pigmentosa: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Vision issue: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Macular degeneration: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)

Last updated: 2024-06-30

RCBTB1 - Gene browser | 3billion