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 -
Segregation -
DB-ID chr1_000191
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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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:


Ensembl Variant Phenotype Information: