View genomic variant #0000017570
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.89860035T>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
FANCI_000003 |
MSCV |
MSCV_0017570 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
8.0E-5 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000548544; RCV000765232; RCV001591204; RCV001848933; | Chromosome | 15:89860035..89860035 | Allele frequencies from ESP | 0.00008 | Allele frequencies from ExAC | 0.00005 | ClinVar Allele ID | 464568 | Disease database name and identifier | MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|not provided|Hereditary spastic paraplegia | HGVS variant names | NC 000015.9:g.89860035T>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(5)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA7724040 | Gene symbol:Gene id. | POLG:5428|FANCI:55215|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 148786642 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001372481; | Chromosome | 15:89860035..89860035 | ClinVar Allele ID | 1049139 | 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.89860035T>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|FANCI:55215|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 148786642 | 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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