View genomic variant #0000020812
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.218472T>G |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000376 |
MSCV |
MSCV_0020812 |
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 | RCV000706101; RCV002440542; RCV003148837; | Chromosome | 5:218472..218472 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 560291 | 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.218472T>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 750380279 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000462474; RCV000662887; RCV001017951; | Chromosome | 5:218472..218472 | ClinVar Allele ID | 394857 | Disease database name and identifier | MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208 | ClinVar preferred disease name | Paragangliomas 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.218472T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA16611812 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 750380279 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000478025; RCV000649438; RCV001257552; RCV002438178; RCV002506172; | Chromosome | 5:218472..218472 | ClinVar Allele ID | 406737 | Disease database name and identifier | 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|MedGen:C3661900|MONDO:MONDO:0013339, MedGen:C3150898, OMIM:613642, Orphanet:154|MONDO:MONDO:0031006, MedGen:C5543254, OMIM:619259|Human Phenotype Ontology:HP:0002859, MONDO:MONDO:0005212, MeSH:D012208, MedGen:C0035412, Orphanet:780 | ClinVar preferred disease name | Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Hereditary cancer-predisposing syndrome|not provided|Dilated cardiomyopathy 1GG|Neurodegeneration with ataxia and late-onset optic atrophy|Rhabdomyosarcoma | HGVS variant names | NC 000005.9:g.218472T>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA16618195 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 750380279 | 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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