View genomic variant #0000020838
Chromosome |
5 |
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.223666G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000446 |
MSCV |
MSCV_0020838 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
8.0E-5 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000210508; RCV000308179; RCV000347454; RCV000401643; RCV000410936; RCV000572294; RCV000678682; RCV001355540; RCV003330583; | Chromosome | 5:223666..223666 | Allele frequencies from ESP | 0.00008 | Allele frequencies from ExAC | 0.00055 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 226816 | Disease database name and identifier | MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0003008, MedGen:C2608055|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Hereditary renal cell carcinoma|Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|not specified|not provided|Leigh syndrome | HGVS variant names | NC 000005.9:g.223666G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(6)|Benign(1)|Likely benign(7) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA358573 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 140736646 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001971036; RCV002386843; | Chromosome | 5:223666..223666 | ClinVar Allele ID | 1410654 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome|Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.223666G>C | 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 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 140736646 | 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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