RGD:150543276 Rat Genome Database

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Variant: RGD:150543276 -  Homo sapiens

RGD ID: 150543276
RS ID: rs111533078
ClinVar ID: CV1309388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 224,656
GRCh38 5 224,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_315t1:c.312+20C>T
NM_001294332.2:c.312+20C>T
NM_001330758.2:c.312+20C>T
NM_004168.4:c.312+20C>T
More... 		11/17/2021 intron variant likely benign|uncertain significance Complex 2 mitochondrial respiratory chain deficiency; Mitochondrial complex II deficiency; none provided; 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:XM_047417467
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001294332
Location:INTRON

Gene Symbol:SDHA
Accession:NM_004168
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001330758
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002077205 CLINVAR
  RCV003238458 CLINVAR
dbSNP (RS) rs111533078 CLINVAR
MedGen C3661900 CLINVAR
  C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR