View genomic variant #0000025769
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.84676821_84676822del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SUCLG1_000041 |
MSCV |
- |
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 |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000779337; | Chromosome | 2:84676821..84676822 | ClinVar Allele ID | 620094 | 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.84676822 84676823del | 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 | OMIM:611224.0001 | Gene symbol:Gene id. | SUCLG1:8802 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1308442327 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002153298; | Chromosome | 2:84676821..84676821 | ClinVar Allele ID | 1520351 | 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.84676821A>G | 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:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 1404476699 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001754632; RCV001868424; | Chromosome | 2:84676822..84676822 | ClinVar Allele ID | 1300772 | 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.84676822T>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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:0001583|missense variant | Allele origin | germline | dbSNP ID | 892512758 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003062802; | Chromosome | 2:84676822..84676822 | ClinVar Allele ID | 1879577 | 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.84676822T>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:0001583|missense 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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