RGD:8599150 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8599150 -  Homo sapiens

RGD ID: 8599150
RS ID: rs74315369
ClinVar ID: CV27822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 17,371,377
GRCh38 1 17,044,882
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012340.1:g.14289C>T
NC_000001.11:g.17044882G>A
NC_000001.10:g.17371377G>A
NP_002991.2:p.Arg27Ter
More... 		09/27/2021 nonsense|stop-gain pathogenic adolescent|childhood 1-5 / 10 000|1-9 / 1 000 000 Cancer predisposition; CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; none provided; Paraganglioma, familial malignant; Paragangliomas 4; Paragangliomas, hereditary extraadrenal; Pheochromocytoma; Pheochromocytoma, extraadrenal and cervical paraganglioma; Pheochromocytoma, familial extraadrenal; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4; SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 4); Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHB
Accession:NM_003000
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQAS*GAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV*

Gene Symbol:SDHB
Accession:NM_001407361
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVVALSLRRRLPATTLGGACLQAS*GAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIK
NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEERE
KLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLN
PGKAIAEIKKMMATYKEKKASV*
Variant Samples
Additional References at PubMed
PMID:12000816   PMID:12362046   PMID:14685938   PMID:15328326   PMID:18382370   PMID:19415531   PMID:19454582   PMID:19802898   PMID:25215250   PMID:25741868   PMID:25972245   PMID:27159321  
PMID:28492532   PMID:28784873   PMID:28973655   PMID:30201732   PMID:31666924  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013623 CLINVAR
  RCV000129929 CLINVAR
  RCV000471400 CLINVAR
  RCV000505368 CLINVAR
  RCV000657585 CLINVAR
  RCV003473085 CLINVAR
dbSNP (RS) rs74315369 CLINVAR
MedGen C0027672 CLINVAR
  C0238198 CLINVAR
  C1708353 CLINVAR
  C1861848 CLINVAR
  C3661900 CLINVAR
NCBI Gene SDHB CLINVAR
OMIM 115310 CLINVAR
  171300 CLINVAR
  185470 CLINVAR
  606764 CLINVAR
OMIM Allele 185470.0006 CLINVAR
SNOMED CT 699346009 CLINVAR