RGD:156162032 Rat Genome Database

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Variant: RGD:156162032 -  Homo sapiens

RGD ID: 156162032
ClinVar ID: CV2074386
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 240,471
GRCh38 5 240,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_315t1:c.1433-2A>G
NM_001294332.2:c.1289-2A>G
NM_001330758.2:c.1433-2A>G
NM_004168.4:c.1433-2A>G
More... 		11/28/2021 splice acceptor variant likely pathogenic 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 Transcripts
Gene Symbol:SDHA
Accession:NM_004168
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001330758
Location:INTRON

Gene Symbol:SDHA
Accession:XM_047417467
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001294332
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514072
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514073
Location:INTRON

Gene Symbol:SDHA
Accession:XR_007058614
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22974104   PMID:24781757   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002851247 CLINVAR
MedGen C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR