RGD:405175072 Rat Genome Database

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Variant: RGD:405175072 -  Homo sapiens

RGD ID: 405175072
ClinVar ID: CV3104918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 233,735
GRCh38 5 233,620
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_315t1:c.1039A>C
NM_001330758.2:c.1039A>C
NM_004168.4:c.1039A>C
NM_001294332.2:c.895A>C
More... 		02/02/2023 missense variant uncertain significance Complex 2 mitochondrial respiratory chain deficiency; Mitochondrial complex II deficiency; Paragangliomas 5; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; Succinate CoQ reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003803416 CLINVAR
MedGen C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR