View genomic variant #0000026901

Variant on transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

0 entries on 0 pages.

10 per page 25 per page 50 per page 100 per page 250 per page 500 per page 1000 per page

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function

No results have been found that match your criteria. Please redefine your search criteria.

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000817594; RCV003307536;
Chromosome	1:17371343..17371343
ClinVar Allele ID	627112
Disease database name and identifier	Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Gastrointestinal stroma tumor|Paragangliomas 4|Pheochromocytoma|Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17371343C>G
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Uncertain significance
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	143058777
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000230624; RCV000353258; RCV000260688; RCV000575516; RCV001697230; RCV002223144; RCV002465588; RCV003316258;
Chromosome	1:17371343..17371343
Allele frequencies from ESP	0.00015
Allele frequencies from ExAC	0.00054
Allele frequencies from TGP	0.00120
ClinVar Allele ID	238190
Disease database name and identifier	MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286
ClinVar preferred disease name	Mitochondrial complex 2 deficiency, nuclear type 4|Gastrointestinal stroma tumor|Paragangliomas 4|Pheochromocytoma|Hereditary cancer-predisposing syndrome|not specified|not provided|Hereditary pheochromocytoma-paraganglioma|Carney-Stratakis syndrome
HGVS variant names	NC 000001.10:g.17371343C>T
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(2)|Likely benign(6)
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA089514
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin
dbSNP ID	143058777
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000633966;
Chromosome	1:17371344..17371344
ClinVar Allele ID	515373
Disease database name and identifier	MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890
ClinVar preferred disease name	Paragangliomas 4|Pheochromocytoma|Gastrointestinal stroma tumor
HGVS variant names	NC 000001.10:g.17371347del
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Variant clinical sources reported	ClinGen:CA658795409
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001589|frameshift variant
Allele origin	germline
dbSNP ID	398123690
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