DNAJB6 Chromosome 7
DnaJ heat shock protein family (Hsp40) member B6
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What This Gene Does
This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
7q36.3
Ensembl
ENSG00000105993
Associated Conditions (11)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases
DNAJB6-related disorder
Muscular dystrophy
limb-girdle
autosomal dominant
Ehlers-Danlos syndrome
classic type
2
1
Abnormality of the musculature
Key Variants
RS112310856
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS1252030610
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS140662370
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS142974468
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS145897776
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS149027078
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS150583876
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS150709673
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS1584956408
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS368036062
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS369098407
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Health Risk
RS373070679
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Muscular dystrophy
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112310856 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS1252030610 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS140662370 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS142974468 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS145897776 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS149027078 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS150583876 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS150709673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS1584956408 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS368036062 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS369098407 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS373070679 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Muscular dystrophy |
| RS373354100 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS375911119 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS376405451 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS387907150 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Ehlers-Danlos syndrome, classic type |
| RS548325183 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS552613359 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS556999563 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS575604496 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS749714667 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS757767434 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS758663546 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS759259870 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS762487513 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS763185312 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS765102730 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS765815570 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS772121051 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886042415 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886042682 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886043951 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886044069 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886062129 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886062134 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS886062136 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS927500992 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS978425267 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS575938861 | Health Risk | Likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS149278319 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS387907046 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS387907047 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS759982570 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Abnormality of the musculature, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS869320700 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS869320701 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| RS869320702 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |