View genomic variant #0000000089
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.173800770T>C |
Published as |
- |
GERP |
5.770 |
Segregation |
- |
DB-ID |
DARS2_000014 |
MSCV |
MSCV_0000089 |
dbSNP ID |
rs142433332 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
19592391;20506600;17384640 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00023 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000001117; RCV000255444; RCV000415333; RCV000626946; RCV002512635; | Chromosome | 1:173800770..173800770 | ClinVar Allele ID | 16101 | 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|MeSH:D030342, MedGen:C0950123|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|Inborn genetic diseases|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.173800770T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA208387|OMIM:610956.0006 | Gene symbol:Gene id. | DARS2:55157 | Molecular consequence | SO:0001575|splice donor variant | Allele origin | germline | dbSNP ID | 142433332 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0012622, MedGen:C1970180, OMIM:611105, Orphanet:137898 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 1802158:Pathogenic | 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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