View genomic variant #0000000579
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89859994C>A |
Published as |
- |
GERP |
5.030 |
Segregation |
- |
DB-ID |
POLG_000031 See all 2 reported entries |
MSCV |
MSCV_0000579 |
dbSNP ID |
rs3087374 |
Frequency |
- |
Sources |
; clinVar; ensembl; POLG_MUT_DB; |
Reference |
20301791 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.05955 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000118022; RCV000291582; RCV000327842; RCV000676315; RCV000758401; RCV001000243; RCV001847612; RCV002311519; RCV002496426; | Chromosome | 15:89859994..89859994 | Allele frequencies from ESP | 0.05955 | Allele frequencies from ExAC | 0.06136 | Allele frequencies from TGP | 0.02696 | ClinVar Allele ID | 34168 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:C4763519|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|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0019391, MeSH:D005199, MedGen:C0015625, OMIM:PS227650, Orphanet:84|MONDO:MONDO:0012186, MedGen:C1836861, OMIM:609053, Orphanet:84 | ClinVar preferred disease name | Inborn genetic diseases|POLG-Related Spectrum Disorders|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|not provided|not specified|Hereditary spastic paraplegia|Fanconi anemia|Fanconi anemia complementation group I | HGVS variant names | NC 000015.9:g.89859994C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA154730|UniProtKB:P54098#VAR 014911 | 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 | 3087374 | 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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