View genomic variant #0000026892

Variant on transcripts

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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.

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Gene	Transcript ID	Transcript	Variant ID	Affects function

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001025764;
Chromosome	1:17349179..17349180
ClinVar Allele ID	806480
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.17349180dup
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	Duplication
Sequence Ontology for variant type	SO:1000035
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001589|frameshift variant
Allele origin	germline
dbSNP ID	1570944890
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000131970; RCV000183215; RCV000456660; RCV000505312; RCV000660259; RCV000762865; RCV001310280; RCV003474782;
Chromosome	1:17349179..17349179
ClinVar Allele ID	152351
Disease database name and identifier	MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|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|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286|MedGen:C3661900|MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072
ClinVar preferred disease name	Mitochondrial complex 2 deficiency, nuclear type 4|Pheochromocytoma|Gastrointestinal stroma tumor|Paragangliomas 4|Hereditary cancer-predisposing syndrome|Carney-Stratakis syndrome|not provided|Hereditary pheochromocytoma-paraganglioma
HGVS variant names	NC 000001.10:g.17349179C>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic/Likely pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA016085|OMIM:185470.0023
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	587782604
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