RGD:13816596 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:13816596 -  Homo sapiens

RGD ID: 13816596
RS ID: rs752689382
ClinVar ID: CV564409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127822505  SDHD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 111,958,644
GRCh38 11 112,087,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276506.2:c.116C>T
NM_003002.4:c.116C>T
NM_001276504.2:c.53-947C>T
NG_033145.1:g.3879G>A
More... 		10/08/2018 intron variant uncertain significance AllHighlyPenetrant; Cancer predisposition; Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden syndrome 3; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; Neoplastic Syndromes, Hereditary; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHD
Accession:NM_003002
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRLIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276506
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRLIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWLECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK*

Gene Symbol:SDHD
Accession:NM_001276503
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRLIPEWCGVQHIHLSPSHHWALDKLLLTMFMGMPCRKLPRQGF
WHFQL*

Gene Symbol:SDHD
Accession:NR_077060
Location:EXON;NON-CODING

Gene Symbol:SDHD
Accession:NM_001276504
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:34906457  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001010098 CLINVAR
  RCV001816738 CLINVAR
  RCV002233436 CLINVAR
  RCV003472251 CLINVAR
dbSNP (RS) rs752689382 CLINVAR
MedGen C0027672 CLINVAR
  C1847319 CLINVAR
  C5436934 CLINVAR
  CN169374 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
  619167 CLINVAR
SNOMED CT 699346009 CLINVAR