RGD:126920485 Rat Genome Database

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Variant: RGD:126920485 -  Homo sapiens

RGD ID: 126920485
RS ID: rs369321221
ClinVar ID: CV1043542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 223,682
GRCh38 5 223,567
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_315t1:c.149C>G
NM_001294332.2:c.149C>G
NM_001330758.2:c.149C>G
NM_004168.4:c.149C>G
More... 		10/28/2020 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 Transcripts
Gene Symbol:SDHA
Accession:NM_001330758
Location:EXON

Gene Symbol:SDHA
Accession:XM_011514072
Location:EXON

Gene Symbol:SDHA
Accession:XM_011514073
Location:EXON

Gene Symbol:SDHA
Accession:XM_047417467
Location:EXON

Gene Symbol:SDHA
Accession:NM_004168
Location:EXON

Gene Symbol:SDHA
Accession:NM_001294332
Location:EXON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001373831 CLINVAR
dbSNP (RS) rs369321221 CLINVAR
MedGen C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR