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DNAJC1

Synonyms
DNAJL1, ERdj1, HTJ1, MTJ1
External resources
Summary
The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,189
Likely benign
435
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DNAJC1 gene.

Phenotype class
Patients in 3billion (%)

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