DNAJC30 DnaJ heat shock protein family (Hsp40) member C30
Information
- Symbol
- DNAJC30
- Type
- protein-coding
- Description
- DnaJ heat shock protein family (Hsp40) member C30
- Entrez Gene ID
- 84277
- Genome
- hg19
- Position
- chr7:73,095,248-73,097,783
- Genome
- hg38
- Position
- chr7:73,680,918-73,683,453
- MIM
- 618202 OMIM
- HGNC
- HGNC:16410 HGNC
- Ensembl
- ENSG00000176410 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 2 |
Likely benign | 0 | 4 |
not provided | 3 | 0 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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36 |
![]() |
8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | LHONAR |
SYNONYM | LHONAR1 |
SYNONYM | MC1DN38 |
SYNONYM | WBSCR18 |
MIM | 618202 OMIM |
HGNC | HGNC:16410 HGNC |
Ensembl | ENSG00000176410 Ensembl |
AllianceGenome | HGNC:16410 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000395176.3 | hg38 | chr7 | 73,680,918 | 73,683,453 | 2,536 |
ENST00000395176.3 | hg19 | chr7 | 73,095,248 | 73,097,783 | 2,536 |
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