View genomic variant #0000026890
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.17345450G>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
chr1_000498 |
MSCV |
- |
dbSNP ID |
- |
Frequency |
- |
Sources |
; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Retrieve |
Owner |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000708779; RCV000819850; RCV001310279; RCV002268269; | Chromosome | 1:17345450..17345450 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 575654 | Disease database name and identifier | MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0016063, MedGen:C0018553, OMIM:PS158350, Orphanet:201|MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|MedGen:C3661900 | ClinVar preferred disease name | Paragangliomas 4|Gastrointestinal stroma tumor|Pheochromocytoma|Cowden syndrome|Mitochondrial complex 2 deficiency, nuclear type 4|not provided | HGVS variant names | NC 000001.10:g.17345450G>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | OMIM:185470.0022 | Gene symbol:Gene id. | SDHB:6390 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 761350633 | 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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