DNAJC12 Chromosome 10
DnaJ heat shock protein family (Hsp40) member C12
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What This Gene Does
This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000108176
Associated Conditions (3)
Inborn genetic diseases
DNAJC12-related disorder
Hyperphenylalaninemia due to DNAJC12 deficiency
Key Variants
RS150595411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368204647
Conflicting classifications of pathogenicity
DNAJC12-related disorder, Inborn genetic diseases, DNAJC12-related disorder
Health Risk
RS74142901
Conflicting classifications of pathogenicity
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS2131820258
Likely pathogenic
Health Risk
RS2131820351
Likely pathogenic
Health Risk
RS1035794099
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS1273776043
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS1277990552
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS1589052989
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS1841794635
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS1841794857
Pathogenic
Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
Health Risk
RS2492831158
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150595411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368204647 | Health Risk | Conflicting classifications of pathogenicity | DNAJC12-related disorder, Inborn genetic diseases, DNAJC12-related disorder |
| RS74142901 | Health Risk | Conflicting classifications of pathogenicity | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS2131820258 | Health Risk | Likely pathogenic | — |
| RS2131820351 | Health Risk | Likely pathogenic | — |
| RS1035794099 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1273776043 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1277990552 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1589052989 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1841794635 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1841794857 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS2492831158 | Health Risk | Pathogenic | — |
| RS370032864 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Inborn genetic diseases, DNAJC12-related disorder |
| RS755829473 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS761235755 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS772120310 | Health Risk | Pathogenic | — |
| RS775029664 | Health Risk | Pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS1443792358 | Health Risk | Pathogenic/Likely pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS569240271 | Health Risk | Pathogenic/Likely pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |
| RS753374676 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS770562664 | Health Risk | Pathogenic/Likely pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency |