View genomic variant #0000000086
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
ins |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.173797450_173797451insC |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
DARS2_000011 |
MSCV |
MSCV_0000086 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; |
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 | RCV000023847; | Chromosome | 1:173797449..173797449 | ClinVar Allele ID | 39819 | Disease database name and identifier | MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898 | ClinVar preferred disease name | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HGVS variant names | NC 000001.10:g.173797449T>A | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | OMIM:610956.0012 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1557853625 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000676385; RCV003343985; | Chromosome | 1:173797450..173797451 | Allele frequencies from TGP | 0.00100 | ClinVar Allele ID | 549864 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898 | ClinVar preferred disease name | not provided|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HGVS variant names | NC 000001.10:g.173797450 173797451insC | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 367543010 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000001112; RCV000415026; RCV000626945; RCV003332072; | Chromosome | 1:173797450..173797451 | ClinVar Allele ID | 16096 | Disease database name and identifier | Human Phenotype Ontology:HP:0001368, Human Phenotype Ontology:HP:0001997, MONDO:MONDO:0005393, MedGen:C0018099|Human Phenotype Ontology:HP:0000822, Human Phenotype Ontology:HP:0004949, Human Phenotype Ontology:HP:0005126, MONDO:MONDO:0005044, MedGen:C0020538|Human Phenotype Ontology:HP:0001762, MONDO:MONDO:0007342, MedGen:C0009081, OMIM:119800, Orphanet:199315|Human Phenotype Ontology:HP:0003482, MedGen:C4025609|Human Phenotype Ontology:HP:0007222, Human Phenotype Ontology:HP:0007305, MedGen:C0338474|Human Phenotype Ontology:HP:0007055, Human Phenotype Ontology:HP:0007141, Human Phenotype Ontology:HP:0007237, MedGen:C1112256|Human Phenotype Ontology:HP:0002355, Human Phenotype Ontology:HP:0007101, Human Phenotype Ontology:HP:0009030, MedGen:C0311394|Human Phenotype Ontology:HP:0001760, Human Phenotype Ontology:HP:0010216, Human Phenotype Ontology:HP:0010611, MedGen:C5399834|Human Phenotype Ontology:HP:0002120, Human Phenotype Ontology:HP:0006823, Human Phenotype Ontology:HP:0006835, MedGen:C4551583|Human Phenotype Ontology:HP:0002166, MedGen:C1849134|MedGen:C3661900|MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898|Human Phenotype Ontology:HP:0002066, Human Phenotype Ontology:HP:0002379, MedGen:C0751837|Human Phenotype Ontology:HP:0001310, MedGen:C0234162|Human Phenotype Ontology:HP:0002141, Human Phenotype Ontology:HP:0100683, MedGen:C1836150 | ClinVar preferred disease name | Gout|Hypertensive disorder|Talipes equinovarus|EMG: axonal abnormality|CNS demyelination|Sensorimotor neuropathy|Difficulty walking|Abnormal foot morphology|Cerebral cortical atrophy|Impaired vibration sensation in the lower limbs|not provided|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|Gait ataxia|Dysmetria|Gait imbalance | HGVS variant names | NC 000001.10:g.173797450 173797451delinsC | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA339865|OMIM:610956.0001 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1553201258 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003223928; | Chromosome | 1:173797450..173797451 | ClinVar Allele ID | 2477815 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.173797450 173797451delinsCC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002866149; | Chromosome | 1:173797451..173797453 | ClinVar Allele ID | 2079901 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.173797451 173797453del | 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. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000124657; RCV000676388; RCV003343652; | Chromosome | 1:173797451..173797451 | Allele frequencies from ExAC | 0.24948 | ClinVar Allele ID | 140771 | Disease database name and identifier | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898 | ClinVar preferred disease name | not specified|not provided|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HGVS variant names | NC 000001.10:g.173797451T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA290566 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 55878143 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000605642; | Chromosome | 1:173797451..173797451 | ClinVar Allele ID | 498284 | Disease database name and identifier | MedGen:CN169374 | ClinVar preferred disease name | not specified | HGVS variant names | NC 000001.10:g.173797451delinsCC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA658795565 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1553201265 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000676391; RCV002489143; | Chromosome | 1:173797451..173797452 | ClinVar Allele ID | 404985 | Disease database name and identifier | MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898|MedGen:C3661900 | ClinVar preferred disease name | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|not provided | HGVS variant names | NC 000001.10:g.173797461dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA1250054 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 374122386 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002130031; | Chromosome | 1:173797451..173797452 | ClinVar Allele ID | 1557590 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.173797460 173797461dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 374122386 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000676390; RCV003343852; | Chromosome | 1:173797452..173797452 | ClinVar Allele ID | 404984 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898 | ClinVar preferred disease name | not provided|Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HGVS variant names | NC 000001.10:g.173797461del | 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:CA1250053 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 374122386 | 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
|