View genomic variant #0000018246
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12921110G>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
ELAC2_000015 |
MSCV |
MSCV_0018246 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000676447; RCV001080140; RCV003316293; | Chromosome | 17:12921110..12921110 | Allele frequencies from ESP | 0.00148 | Allele frequencies from TGP | 0.00240 | ClinVar Allele ID | 242592 | Disease database name and identifier | MONDO:MONDO:0014190, MedGen:C3809526, OMIM:615440, Orphanet:369913|MedGen:C3661900|MONDO:MONDO:0013872, MedGen:C3539120, OMIM:614731, Orphanet:1331 | ClinVar preferred disease name | Combined oxidative phosphorylation defect type 17|not provided|Prostate cancer, hereditary, 2 | HGVS variant names | NC 000017.10:g.12921110G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA8401824|UniProtKB:Q9BQ52#VAR 038210 | Gene symbol:Gene id. | ELAC2:60528 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 9895963 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000786129; RCV001085155; RCV003224237; | Chromosome | 17:12921110..12921110 | Allele frequencies from TGP | 0.00060 | ClinVar Allele ID | 242593 | Disease database name and identifier | MONDO:MONDO:0014190, MedGen:C3809526, OMIM:615440, Orphanet:369913|MONDO:MONDO:0013872, MedGen:C3539120, OMIM:614731, Orphanet:1331|MedGen:C3661900 | ClinVar preferred disease name | Combined oxidative phosphorylation defect type 17|Prostate cancer, hereditary, 2|not provided | HGVS variant names | NC 000017.10:g.12921110G>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA8401825 | Gene symbol:Gene id. | ELAC2:60528 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 9895963 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001924017; | Chromosome | 17:12921110..12921110 | ClinVar Allele ID | 1353269 | Disease database name and identifier | MONDO:MONDO:0014190, MedGen:C3809526, OMIM:615440, Orphanet:369913 | ClinVar preferred disease name | Combined oxidative phosphorylation defect type 17 | HGVS variant names | NC 000017.10:g.12921110G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | ELAC2:60528 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 9895963 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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