View genomic variant #0000026890

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.17345450G>C
Published as -
Segregation -
DB-ID chr1_000498
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 RCV000708779; RCV000819850; RCV001310279; RCV002268269;
Chromosome 1:17345450..17345450
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 575654
Disease database name and identifier 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|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0016063, MedGen:C0018553, OMIM:PS158350, Orphanet:201|MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|MedGen:C3661900
ClinVar preferred disease name Paragangliomas 4|Gastrointestinal stroma tumor|Pheochromocytoma|Cowden syndrome|Mitochondrial complex 2 deficiency, nuclear type 4|not provided
HGVS variant names NC 000001.10:g.17345450G>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1)|Uncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM:185470.0022
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 761350633
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: