View genomic variant #0000026899

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	RCV000164746; RCV000467539; RCV001002472; RCV001294007; RCV001257497; RCV001753560; RCV002498816; RCV003474863;
Chromosome	1:17371286..17371290
ClinVar Allele ID	181622
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|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|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286|MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome|not provided|not specified|Paragangliomas 4|Gastrointestinal stroma tumor|Carney-Stratakis syndrome|Mitochondrial complex 2 deficiency, nuclear type 4|Pheochromocytoma
HGVS variant names	NC 000001.10:g.17371287 17371291del
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Variant clinical sources reported	ClinGen:CA015546
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001589|frameshift variant
Allele origin	germline
dbSNP ID	786202100
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000122000; RCV000129655; RCV000148867; RCV000301812; RCV000358920; RCV000513898; RCV001083041; RCV003315777;
Chromosome	1:17371286..17371286
Allele frequencies from ESP	0.00284
Allele frequencies from ExAC	0.00072
Allele frequencies from TGP	0.00240
ClinVar Allele ID	138931
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:0016063, MedGen:C0018553, OMIM:PS158350, Orphanet:201|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	Gastrointestinal stroma tumor|Paragangliomas 4|Pheochromocytoma|Cowden syndrome|Hereditary cancer-predisposing syndrome|not specified|not provided|Hereditary pheochromocytoma-paraganglioma|Carney-Stratakis syndrome
HGVS variant names	NC 000001.10:g.17371286T>C
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA015557
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	35962811
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV002414685;
Chromosome	1:17371287..17371287
ClinVar Allele ID	1834282
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17371287G>A
ClinVar review status	criteria provided, single submitter
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
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV002403968;
Chromosome	1:17371290..17371290
ClinVar Allele ID	1828149
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17371290G>C
ClinVar review status	criteria provided, single submitter
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
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