View genomic variant #0000017747
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876595A>G |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
POLG_000243 |
MSCV |
MSCV_0017747 |
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 | RCV000469850; RCV000578205; RCV000726559; RCV001116622; RCV001252352; RCV002321761; | Chromosome | 15:89876595..89876595 | Allele frequencies from ExAC | 0.00046 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 203048 | Disease database name and identifier | MONDO:MONDO:0018158, MedGen:C0342782, OMIM:PS603041, Orphanet:35698|MONDO:MONDO:0000451, MedGen:C0751964|MeSH:D030342, MedGen:C0950123|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0000730, Human Phenotype Ontology:HP:0001249, Human Phenotype Ontology:HP:0001267, Human Phenotype Ontology:HP:0001286, Human Phenotype Ontology:HP:0002122, Human Phenotype Ontology:HP:0002192, Human Phenotype Ontology:HP:0002316, Human Phenotype Ontology:HP:0002382, Human Phenotype Ontology:HP:0002386, Human Phenotype Ontology:HP:0002402, Human Phenotype Ontology:HP:0002458, Human Phenotype Ontology:HP:0002482, Human Phenotype Ontology:HP:0002499, Human Phenotype Ontology:HP:0002543, Human Phenotype Ontology:HP:0003767, Human Phenotype Ontology:HP:0006833, Human Phenotype Ontology:HP:0007154, Human Phenotype Ontology:HP:0007176, Human Phenotype Ontology:HP:0007180, MONDO:MONDO:0001071, MeSH:D008607, MedGen:C3714756 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome|Primary progressive multiple sclerosis|Inborn genetic diseases|POLG-Related Spectrum Disorders|not provided|Progressive sclerosing poliodystrophy|Intellectual disability | HGVS variant names | NC 000015.9:g.89876595A>G | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(11)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA316634 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 562847013 | 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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