View genomic variant #0000020853
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.224566C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SDHA_000020 |
MSCV |
MSCV_0020853 |
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 | RCV001381899; RCV002456598; RCV003148988; | Chromosome | 5:224566..224567 | ClinVar Allele ID | 1060389 | Disease database name and identifier | 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 | Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5 | HGVS variant names | NC 000005.9:g.224566 224567insA | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 2126542910 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000546249; | Chromosome | 5:224566..224566 | ClinVar Allele ID | 455036 | 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.224566C>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA359008555 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1553997357 | 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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