DNAJC30 Chromosome 7
DnaJ heat shock protein family (Hsp40) member C30
Upload your DNA to see your personal genotypes for variants in DNAJC30.
What This Gene Does
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]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000176410
Associated Conditions (10)
DNAJC30-related disorder
Leber hereditary optic neuropathy
autosomal recessive
Leber-like hereditary optic neuropathy
autosomal recessive 1
DNAJC30-associated disorder
Leber optic atrophy
susceptibility to
Retinal dystrophy
Optic atrophy
Key Variants
RS782182218
Likely pathogenic
DNAJC30-related disorder, DNAJC30-related disorder
Health Risk
RS965912564
Likely pathogenic
Leber hereditary optic neuropathy, autosomal recessive, Leber hereditary optic neuropathy
Health Risk
RS1267883785
Pathogenic
Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy
Health Risk
RS2116654140
Pathogenic
Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy
Health Risk
RS2116654445
Pathogenic
Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy
Health Risk
RS2484465418
Pathogenic
Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy
Health Risk
RS782463803
Pathogenic
Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy
Health Risk
RS61732167
Pathogenic/Likely pathogenic
DNAJC30-associated disorder, Leber hereditary optic neuropathy, autosomal recessive
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782182218 | Health Risk | Likely pathogenic | DNAJC30-related disorder, DNAJC30-related disorder |
| RS965912564 | Health Risk | Likely pathogenic | Leber hereditary optic neuropathy, autosomal recessive, Leber hereditary optic neuropathy |
| RS1267883785 | Health Risk | Pathogenic | Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy |
| RS2116654140 | Health Risk | Pathogenic | Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy |
| RS2116654445 | Health Risk | Pathogenic | Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy |
| RS2484465418 | Health Risk | Pathogenic | Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy |
| RS782463803 | Health Risk | Pathogenic | Leber-like hereditary optic neuropathy, autosomal recessive 1, Leber-like hereditary optic neuropathy |
| RS61732167 | Health Risk | Pathogenic/Likely pathogenic | DNAJC30-associated disorder, Leber hereditary optic neuropathy, autosomal recessive |