View genomic variant #0000026896

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.17355214C>T
Published as	-
GERP	-
Segregation	-
DB-ID	chr1_000441
MSCV	-
dbSNP ID	-
Frequency	-
Sources	;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Retrieve
Owner	Lishuang Shen

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.

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
RCVaccession	RCV001018296; RCV001310281; RCV001766844; RCV001860902;
Chromosome	1:17355214..17355214
Allele frequencies from ExAC	0.00002
ClinVar Allele ID	806498
Disease database name and identifier	MedGen:C3661900\|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072\|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:0030974, MedGen:C5543176, OMIM:619224
ClinVar preferred disease name	not provided\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma\|Paragangliomas 4\|Gastrointestinal stroma tumor\|Mitochondrial complex 2 deficiency, nuclear type 4
HGVS variant names	NC 000001.10:g.17355214C>T
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Likely pathogenic(1)\|Uncertain significance(4)
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	OMIM:185470.0024
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583\|missense variant
Allele origin
dbSNP ID	777578399
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