View genomic variant #0000001014
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.251215C>T |
Published as |
- |
GERP |
-0.716 |
Segregation |
- |
DB-ID |
SDHA_000006 See all 2 reported entries |
MSCV |
MSCV_0001014 |
dbSNP ID |
rs9809219 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
7550341 |
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 | RCV002217905; RCV002398197; | Chromosome | 5:251215..251215 | ClinVar Allele ID | 1539014 | 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.251215C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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 | 9809219 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000009281; RCV000456631; RCV000573113; RCV000790927; RCV001818148; RCV003315222; RCV003473060; | Chromosome | 5:251215..251215 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 23781 | Disease database name and identifier | MedGen:C5669877|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|MedGen:C3661900|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MONDO:MONDO:0013339, MedGen:C3150898, OMIM:613642, Orphanet:154 | ClinVar preferred disease name | Diffuse midline glioma, H3 K27-altered|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|not provided|Leigh syndrome|Dilated cardiomyopathy 1GG | HGVS variant names | NC 000005.9:g.251215C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(5)|Uncertain significance(3) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA119879|OMIM:600857.0001|UniProtKB:P31040#VAR 002449 | Gene symbol:Gene id. | SDHA:6389 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | | dbSNP ID | 9809219 | 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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