View genomic variant #0000026900

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.17371313T>A
Published as	-
GERP	-
Segregation	-
DB-ID	chr1_000191
MSCV	-
dbSNP ID	-
Frequency	-
Sources	;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Retrieve
Owner	Lishuang Shen

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
RCVaccession	RCV000032784; RCV000470589; RCV001011583; RCV001249469; RCV001578167; RCV003315403; RCV003473248;
Chromosome	1:17371313..17371313
Allele frequencies from ExAC	0.00005
ClinVar Allele ID	48183
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\|MedGen:C3661900\|MONDO:MONDO:0100294, MedGen:C5700310, OMIM:252011, Orphanet:3208
ClinVar preferred disease name	Mitochondrial complex 2 deficiency, nuclear type 4\|Pheochromocytoma\|Gastrointestinal stroma tumor\|Paragangliomas 4\|Hereditary cancer-predisposing syndrome\|not provided\|Mitochondrial complex II deficiency, nuclear type 1
HGVS variant names	NC 000001.10:g.17371313T>A
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:CA015528\|OMIM:185470.0020
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583\|missense variant
Allele origin
dbSNP ID	202101384
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