View genomic variant #0000020810
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.218471A>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000001 See all 2 reported entries |
MSCV |
MSCV_0001009 |
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 | RCV003040638; | Chromosome | 5:218471..218472 | ClinVar Allele ID | 2191658 | Disease database name and identifier | MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072 | ClinVar preferred disease name | Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5 | HGVS variant names | NC 000005.9:g.218477 218494dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001821|inframe insertion | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000009283; RCV001233940; RCV002415407; RCV003450622; RCV003234897; | Chromosome | 5:218471..218471 | ClinVar Allele ID | 23783 | Disease database name and identifier | MONDO:MONDO:0031006, MedGen:C5543254, OMIM:619259|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072 | ClinVar preferred disease name | Neurodegeneration with ataxia and late-onset optic atrophy|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5 | HGVS variant names | NC 000005.9:g.218471A>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA119881|OMIM:600857.0003 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1061517 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000230468; RCV000567727; RCV000579224; RCV000656497; | Chromosome | 5:218471..218471 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 239796 | 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 | ClinVar preferred disease name | Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Hereditary cancer-predisposing syndrome|not provided | HGVS variant names | NC 000005.9:g.218471A>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:CA3172674 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1061517 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000410820; RCV001041479; RCV002418229; RCV003237835; | Chromosome | 5:218471..218471 | ClinVar Allele ID | 358789 | Disease database name and identifier | MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602, MedGen:C3279992, OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162 | ClinVar preferred disease name | Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|not provided|Hereditary cancer-predisposing syndrome | HGVS variant names | NC 000005.9:g.218471A>T | 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:CA16042099 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1061517 | 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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