View genomic variant #0000026893

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.17350566C>T
Published as	-
GERP	-
Segregation	-
DB-ID	chr1_000501
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	RCV000818427;
Chromosome	1:17350566..17350566
ClinVar Allele ID	627092
Disease database name and identifier	Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890\|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072
ClinVar preferred disease name	Gastrointestinal stroma tumor\|Pheochromocytoma\|Paragangliomas 4
HGVS variant names	NC 000001.10:g.17350566C>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
dbSNP ID	201928318
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000460428; RCV001591103; RCV002349989; RCV002475897;
Chromosome 1:17350566..17350566
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 390895
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:0030974, MedGen:C5543176, OMIM:619224|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286|MedGen:C3661900|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name Gastrointestinal stroma tumor|Paragangliomas 4|Pheochromocytoma|Mitochondrial complex 2 deficiency, nuclear type 4|Carney-Stratakis syndrome|not provided|Hereditary cancer-predisposing syndrome
HGVS variant names NC 000001.10:g.17350566C>T
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
Variant clinical sources reported ClinGen:CA089667
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 201928318
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