View genomic variant #0000020888
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.225662C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000219 |
MSCV |
MSCV_0020888 |
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 | RCV001480701; | Chromosome | 5:225662..225662 | ClinVar Allele ID | 1136839 | Disease database name and identifier | MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208 | ClinVar preferred disease name | Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.225662C>A | 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. | SDHA:6389 | Molecular consequence | SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 201453889 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000233726; RCV000332396; RCV000389166; RCV000274933; RCV000564203; | Chromosome | 5:225662..225662 | Allele frequencies from ExAC | 0.00007 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 239805 | Disease database name and identifier | MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Hereditary pheochromocytoma-paraganglioma|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Hereditary cancer-predisposing syndrome|Leigh syndrome | HGVS variant names | NC 000005.9:g.225662C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(2)|Benign(1)|Likely benign(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA3172819 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 201453889 | 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
|