chr17:12991612:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:12,894,929-12,921,344 |
| hg38 | chr17:12,991,612-13,018,027 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.148 | Prostatic Neoplasms | NA | BeFree,CTD_human,LHGDN | Detail | |
| 0.001 | Hereditary pancreatitis | NA | BeFree | Detail | |
| <0.001 | Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency | NA | BeFree | Detail | |
| 0.001 | Hereditary pancreatitis | Furthermore, only the two previously reported missense changes (Ser217Leu and Al... | BeFree | 11254448 | Detail |
| 0.240 | Prostate cancer, hereditary, 2 | Association of HPC2/ELAC2 genotypes and prostate cancer. | UNIPROT | 10986046 | Detail |
| 0.058 | Malignant neoplasm of prostate | The aim of this study was to analyze the use of 12 single-nucleotide polymorphis... | BeFree,GAD | 26251261 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.011 | prostate carcinoma | The aim of this study was to analyze the use of 12 single-nucleotide polymorphis... | BeFree | 26251261 | Detail |
| <0.001 | Intraepithelial Neoplasia | NA | BeFree | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | NA | BeFree | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| 0.122 | Prostate cancer, familial | NA | BeFree,ORPHANET | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| 0.002 | asthma | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, only the two previously reported missense changes (Ser217Leu and Ala541Thr) were identi... | DisGeNET | Detail |
| Association of HPC2/ELAC2 genotypes and prostate cancer. | DisGeNET | Detail |
| The aim of this study was to analyze the use of 12 single-nucleotide polymorphisms in genes ELAC2, R... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of this study was to analyze the use of 12 single-nucleotide polymorphisms in genes ELAC2, R... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs34152967 dbSNP
- Genome
- hg38
- Position
- chr17:12,991,612-13,018,027
- Variant Type
- snv
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