View genomic variant #0000004643
Chromosome |
M |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
ins |
DNA change (genomic) (Relative to hg19 / GRCh37) |
m.5537_5538insAG |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
chrM_000306 |
MSCV |
MSCV_0004643 |
dbSNP ID |
rs199474672 |
Frequency |
- |
Sources |
; clinVar; Mitomap; |
Reference |
12776230;9266739 |
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 | RCV000850782; | Chromosome | M:5536..5537 | ClinVar Allele ID | 677766 | Disease database name and identifier | MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550 | ClinVar preferred disease name | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | HGVS variant names | NC 012920.1:m.5536 5537insT | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | MT-TW:4578 | Allele origin | germline | dbSNP ID | 1603220010 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000010164; RCV000010165; RCV001268092; | Chromosome | M:5537..5538 | ClinVar Allele ID | 24594 | Disease database name and identifier | MedGen:CN517202|Human Phenotype Ontology:HP:0006789, MedGen:C1852373|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | not provided|Mitochondrial encephalopathy|Leigh syndrome | HGVS variant names | NC 012920.1:m.5537 5538insT | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Variant clinical sources reported | ClinGen:CA120541|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:590095.0002 | Gene symbol:Gene id. | MT-TW:4578 | Allele origin | germline | dbSNP ID | 199474672 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000850783; RCV001796794; | Chromosome | M:5538..5538 | ClinVar Allele ID | 677767 | Disease database name and identifier | MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550 | ClinVar preferred disease name | Mitochondrial disease|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | HGVS variant names | NC 012920.1:m.5538G>A | ClinVar review status | reviewed by expert panel | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | MT-TW:4578 | Allele origin | germline | dbSNP ID | 1603220012 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
Locus | Disease | Allele | Amino_Acid_Change | Homoplasmy | Heteroplasmy | STATUS | Note | MT-TW | Leigh Syndrome | A5537insT | tRNA Trp | - | + | Cfrm | RNA |
Ensembl Variant Phenotype Information:
None
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