View genomic variant #0000020808
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.218470C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000374 |
MSCV |
MSCV_0020808 |
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 | RCV002417124; | Chromosome | 5:218470..218470 | ClinVar Allele ID | 1849746 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome | HGVS variant names | NC 000005.9:g.218470C>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. | SDHA:6389 | Molecular consequence | SO:0001623|5 prime UTR variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000279041; RCV000317717; RCV000380480; RCV001013984; RCV003137969; | Chromosome | 5:218470..218470 | ClinVar Allele ID | 303688 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|not provided|Leigh syndrome|Mitochondrial complex II deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.218470C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(5)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA3172673 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001623|5 prime UTR variant | Allele origin | germline | dbSNP ID | 560932680 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000490141; RCV001046092; | Chromosome | 5:218471..218471 | ClinVar Allele ID | 415003 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072 | ClinVar preferred disease name | not provided|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5 | HGVS variant names | NC 000005.9:g.218471del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA645293865 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1085307796 | 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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