View genomic variant #0000026821
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.136218922_136218923insCGATGTACTGCAGATGCT |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SURF1_000050 |
MSCV |
- |
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 |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000689337; | Chromosome | 9:136218922..136218923 | ClinVar Allele ID | 510985 | 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.136218925 136218942dup | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(1) | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | SURF1:6834 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | | dbSNP ID | 782161777 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003051924; | Chromosome | 9:136218922..136218922 | ClinVar Allele ID | 2178270 | 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.136218922A>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. | SURF1:6834 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001215424; | Chromosome | 9:136218923..136218924 | ClinVar Allele ID | 925463 | 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.136218928 136218938dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | SURF1:6834 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1220688120 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000623467; RCV001248476; | Chromosome | 9:136218923..136218923 | Allele frequencies from ESP | 0.00008 | ClinVar Allele ID | 511814 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Inborn genetic diseases|Leigh syndrome | HGVS variant names | NC 000009.11:g.136218923C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA200832020 | Gene symbol:Gene id. | SURF1:6834 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 141561701 | 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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