View genomic variant #0000022878
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.136218989_136218990insT |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SURF1_000015 |
MSCV |
MSCV_0022878 |
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 | RCV000560693; | Chromosome | 9:136218989..136218990 | ClinVar Allele ID | 459192 | Disease database name and identifier | MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Leigh syndrome | HGVS variant names | NC 000009.11:g.136218990dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA658657933 | Gene symbol:Gene id. | SURF1:6834 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1554768246 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000413343; RCV000586290; RCV001849366; RCV002244861; | Chromosome | 9:136218990..136218991 | ClinVar Allele ID | 359786 | Disease database name and identifier | MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MONDO:MONDO:0009068, MedGen:C5435656, OMIM:220110, Orphanet:254905|MONDO:MONDO:0014733, MedGen:C4225246, OMIM:616684, Orphanet:391351|MedGen:C3661900 | ClinVar preferred disease name | Leigh syndrome|Cytochrome-c oxidase deficiency disease|Charcot-Marie-Tooth disease type 4K|not provided | HGVS variant names | NC 000009.11:g.136218990TG[1] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA16042678 | Gene symbol:Gene id. | SURF1:6834 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 782349178 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003055182; | Chromosome | 9:136218990..136218990 | ClinVar Allele ID | 2177551 | Disease database name and identifier | MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Leigh syndrome | HGVS variant names | NC 000009.11:g.136218990T>C | 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. | SURF1:6834 | Molecular consequence | SO:0001819|synonymous 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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