View genomic variant #0000026897

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.17359676C>A
Published as -
Segregation -
DB-ID chr1_000442
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 RCV000252587; RCV001636774; RCV001807164; RCV001807163; RCV001807165; RCV001807162;
Chromosome 1:17359676..17359676
Allele frequencies from ESP 0.95233
Allele frequencies from ExAC 0.97189
Allele frequencies from TGP 0.95907
ClinVar Allele ID 249532
Disease database name and identifier MedGen:CN169374|MedGen:C3661900|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:0030974, MedGen:C5543176, OMIM:619224|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072
ClinVar preferred disease name not specified|not provided|Gastrointestinal stroma tumor|Paragangliomas 4|Mitochondrial complex 2 deficiency, nuclear type 4|Pheochromocytoma
HGVS variant names NC 000001.10:g.17359676C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA089539
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 1022580
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: