RGD:126747902 Rat Genome Database

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Variant: RGD:126747902 -  Homo sapiens

RGD ID: 126747902
RS ID: rs1734837029
ClinVar ID: CV990904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 223,687
GRCh38 5 223,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_315t1:c.150+4A>G
NM_001294332.2:c.150+4A>G
NM_001330758.2:c.150+4A>G
NM_004168.4:c.150+4A>G
More... 		09/09/2020 intron variant uncertain significance Cancer predisposition; Complex 2 mitochondrial respiratory chain deficiency; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Mitochondrial complex II deficiency; Neoplastic Syndromes, Hereditary; Paragangliomas 5; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; Succinate CoQ reductase deficiency; Tumor predisposition
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_001294332
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514072
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514073
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001330758
Location:INTRON

Gene Symbol:SDHA
Accession:XM_047417467
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001306330 CLINVAR
  RCV003166740 CLINVAR
dbSNP (RS) rs1734837029 CLINVAR
MedGen C0027672 CLINVAR
  C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR
SNOMED CT 699346009 CLINVAR