View genomic variant #0000017743
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876408C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
POLG_000018 See all 2 reported entries |
MSCV |
MSCV_0000609 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00054 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV002736453; | Chromosome | 15:89876408..89876408 | ClinVar Allele ID | 2027204 | Disease database name and identifier | MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876408C>G | 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. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant, SO:0001819|synonymous variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000020482; RCV000541557; RCV000724388; RCV001121514; RCV002313715; RCV002476997; | Chromosome | 15:89876408..89876408 | Allele frequencies from ESP | 0.00054 | Allele frequencies from ExAC | 0.00023 | Allele frequencies from TGP | 0.00060 | ClinVar Allele ID | 34170 | Disease database name and identifier | MedGen:C4763519|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|MedGen:C3661900 | ClinVar preferred disease name | POLG-Related Spectrum Disorders|Inborn genetic diseases|Mitochondrial DNA depletion syndrome 1|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Mitochondrial disease|not provided | HGVS variant names | NC 000015.9:g.89876408C>T | ClinVar review status | reviewed by expert panel | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA241475|UniProtKB:P54098#VAR 019267 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 3176162 | 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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