View genomic variant #0000002551
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876852T>C |
Published as |
- |
GERP |
-0.710 |
Segregation |
- |
DB-ID |
POLG_000155 See all 2 reported entries |
MSCV |
MSCV_0002551 |
dbSNP ID |
rs201016638 |
Frequency |
- |
Sources |
; POLG_MUT_DB; |
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 | RCV000175733; RCV000461738; RCV001711597; RCV002314611; | Chromosome | 15:89876852..89876852 | Allele frequencies from ExAC | 0.00067 | Allele frequencies from TGP | 0.00459 | ClinVar Allele ID | 192340 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|not specified|not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876852T>C | 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:CA302810 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 201016638 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000758438; | Chromosome | 15:89876852..89876853 | ClinVar Allele ID | 610805 | 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.89876854 89876855insCGC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1567194472 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001884026; | Chromosome | 15:89876852..89876853 | ClinVar Allele ID | 1474118 | 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.89876853 89876854GCC[3]GCTGCCGC[1] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1567194472 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002867208; | Chromosome | 15:89876853..89876861 | ClinVar Allele ID | 2079077 | 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.89876855 89876863del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001820|inframe indel, SO:0001822|inframe deletion | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002635787; | Chromosome | 15:89876853..89876867 | ClinVar Allele ID | 1982078 | 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.89876858 89876872del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001820|inframe indel, SO:0001822|inframe deletion | Allele origin | germline | 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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