DNAJC30

Chr 7AR

DnaJ heat shock protein family (Hsp40) member C30

Also known as: LHONAR, LHONAR1, MC1DN38, WBSCR18

NCBI Gene: 84277ENSG00000176410UniProt: Q96LL9OMIM: 618202

This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leber-like hereditary optic neuropathy, autosomal recessive 1MIM #619382
AR

Clinical highlights

Gene-disease validity (ClinGen)
Leber-like hereditary optic neuropathy, autosomal recessive 1 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — DNAJC30
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.023
Z-score 0.94
OE 0.56 (0.25–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.08Z-score
OE missense 1.26 (1.11–1.43)
174 obs / 138.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.56 (0.25–1.42)
0≤0.351.4
Missense OE?1.26 (1.11–1.43)
0≤0.61.4
Synonymous OE?1.35
0≤1.21.6
LoF obs/exp: 3 / 5.4Missense obs/exp: 174 / 138.3Syn Z: -2.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAJC30 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients