HSD17B10 hydroxysteroid 17-beta dehydrogenase 10
Information
- Symbol
- HSD17B10
- Type
- protein-coding
- Description
- hydroxysteroid 17-beta dehydrogenase 10
- Entrez Gene ID
- 3028
- Genome
- hg19
- Position
- chrX:53,458,209-53,461,317
- Genome
- hg38
- Position
- chrX:53,431,261-53,434,370
- MIM
- 300256 OMIM
- HGNC
- HGNC:4800 HGNC
- Ensembl
- ENSG00000072506 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 16 |
| Likely pathogenic | 0 | 22 |
| Benign | 0 | 8 |
| Likely benign | 0 | 176 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 94 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
32 |
 |
266 |
 |
10 |
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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| 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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| 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 | : |
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| 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 | 17b-HSD10 |
| SYNONYM | ABAD |
| SYNONYM | CAMR |
| SYNONYM | DUPXp11.22 |
| SYNONYM | ERAB |
| SYNONYM | HADH2 |
| SYNONYM | HCD2 |
| SYNONYM | HSD10MD |
| SYNONYM | MHBD |
| SYNONYM | MRPP2 |
| SYNONYM | MRX17 |
| SYNONYM | MRX31 |
| SYNONYM | MRXS10 |
| SYNONYM | SCHAD |
| SYNONYM | SDR5C1 |
| MIM | 300256 OMIM |
| HGNC | HGNC:4800 HGNC |
| Ensembl | ENSG00000072506 Ensembl |
| AllianceGenome | HGNC:4800 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000375298.4 | hg38 | chrX | 53,431,263 | 53,434,350 | 3,088 |
| ENST00000375304.9 | hg38 | chrX | 53,431,258 | 53,434,356 | 3,099 |
| ENST00000684692.1 | hg38 | chrX | 53,431,261 | 53,434,367 | 3,107 |
| ENST00000168216.11 | hg38 | chrX | 53,431,261 | 53,434,370 | 3,110 |
| ENST00000375304.9 | hg19 | chrX | 53,458,206 | 53,461,303 | 3,098 |
| ENST00000684692.1 | hg19 | chrX | 53,458,209 | 53,461,314 | 3,106 |
| ENST00000168216.11 | hg19 | chrX | 53,458,209 | 53,461,317 | 3,109 |
| ENST00000375298.4 | hg19 | chrX | 53,458,211 | 53,461,297 | 3,087 |
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