View genomic variant #0000019281
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.84676884_84676886del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SUCLG1_000009 |
MSCV |
MSCV_0019281 |
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 | RCV000289373; RCV000383777; | Chromosome | 2:84676884..84676886 | ClinVar Allele ID | 287323 | Disease database name and identifier | MONDO:MONDO:0018158, MedGen:C0342782, OMIM:PS603041, Orphanet:35698|MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome|Mitochondrial DNA depletion syndrome 9 | HGVS variant names | NC 000002.11:g.84676884 84676886del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA10614002 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 886056350 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002159936; | Chromosome | 2:84676884..84676884 | Allele frequencies from ExAC | 0.00003 | ClinVar Allele ID | 1537349 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9 | HGVS variant names | NC 000002.11:g.84676884G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 754389067 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002894977; | Chromosome | 2:84676885..84676885 | ClinVar Allele ID | 2101536 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9 | HGVS variant names | NC 000002.11:g.84676885T>C | 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. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001648474; | Chromosome | 2:84676887..84676887 | ClinVar Allele ID | 1232460 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.84676911del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001719678; | Chromosome | 2:84676887..84676888 | ClinVar Allele ID | 1286253 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.84676910 84676911del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000344267; RCV000395869; RCV000677032; | Chromosome | 2:84676887..84676889 | ClinVar Allele ID | 290735 | Disease database name and identifier | MONDO:MONDO:0018158, MedGen:C0342782, OMIM:PS603041, Orphanet:35698|MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17|MedGen:C3661900 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome|Mitochondrial DNA depletion syndrome 9|not provided | HGVS variant names | NC 000002.11:g.84676909 84676911del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA1736431 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000505994; RCV000677033; | Chromosome | 2:84676887..84676890 | ClinVar Allele ID | 433946 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17|MedGen:C3661900 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9|not provided | HGVS variant names | NC 000002.11:g.84676908 84676911del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA1736429 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000455752; RCV001637030; | Chromosome | 2:84676887..84676891 | ClinVar Allele ID | 389520 | Disease database name and identifier | MedGen:CN169374|MedGen:CN517202 | ClinVar preferred disease name | not specified|not provided | HGVS variant names | NC 000002.11:g.84676907 84676911del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA1736428 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000677034; RCV002531383; | Chromosome | 2:84676887..84676893 | ClinVar Allele ID | 549901 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17|MedGen:CN517202 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9|not provided | HGVS variant names | NC 000002.11:g.84676905 84676911del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002098599; | Chromosome | 2:84676887..84676900 | ClinVar Allele ID | 1553857 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9 | HGVS variant names | NC 000002.11:g.84676898 84676911del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56733272 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002614546; | Chromosome | 2:84676887..84676901 | ClinVar Allele ID | 1991239 | Disease database name and identifier | MONDO:MONDO:0009504, MedGen:C3151476, OMIM:245400, Orphanet:17 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 9 | HGVS variant names | NC 000002.11:g.84676897 84676911del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001627|intron variant | 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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