View genomic variant #0000019238
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.74184365_74184366insAAGT |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
DGUOK_000021 |
MSCV |
MSCV_0019238 |
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 | RCV002034813; | Chromosome | 2:74184364..74184364 | ClinVar Allele ID | 1336768 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.74184364C>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. | DGUOK:1716 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 375774789 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000732795; | Chromosome | 2:74184364..74184364 | Allele frequencies from ESP | 0.00008 | ClinVar Allele ID | 587896 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.74184364C>T | 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. | DGUOK:1716 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 375774789 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000336906; RCV000442793; | Chromosome | 2:74184365..74184365 | ClinVar Allele ID | 290536 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0009636, MedGen:C5191055, OMIM:251880, Orphanet:279934 | ClinVar preferred disease name | not specified|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | HGVS variant names | NC 000002.11:g.74184365G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA10615974 | Gene symbol:Gene id. | DGUOK:1716 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 866403196 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000398691; | Chromosome | 2:74184365..74184366 | ClinVar Allele ID | 287253 | Disease database name and identifier | MONDO:MONDO:0018158, MedGen:C0342782, OMIM:PS603041, Orphanet:35698 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome | HGVS variant names | NC 000002.11:g.74184366AAGT[3] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA1718328 | Gene symbol:Gene id. | DGUOK:1716 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001091890; RCV002290594; | Chromosome | 2:74184366..74184369 | ClinVar Allele ID | 859196 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0009636, MedGen:C5191055, OMIM:251880, Orphanet:279934 | ClinVar preferred disease name | not provided|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | HGVS variant names | NC 000002.11:g.74184366AAGT[1] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | DGUOK:1716 | Molecular consequence | SO:0001575|splice donor variant, 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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