DNAJC30 - Gene browser | 3billion

DNAJC30

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

HCNC Approved Symbol: DNAJC30 (HGNC:16410)
Genomic Coordinates: 7:73,680,918 - 73,683,453 (7q11.23)
Synonyms: WBSCR18
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the DNAJC30 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

Blindness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Leber optic atrophy features: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Optic neuritis: 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

DNAJC30 - Gene browser | 3billion