RGD:12880602 Rat Genome Database

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Variant: RGD:12880602 -  Homo sapiens

RGD ID: 12880602
RS ID: rs1060505010
ClinVar ID: CV395102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 251,593
GRCh38 5 251,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012339.1:g.38238C>T
NC_000005.10:g.251478C>T
NC_000005.9:g.251593C>T
NM_004168.2:c.1794+10C>T
More... 		09/03/2018 intron variant likely benign childhood <1 / 1 000 000 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_001294332
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001330758
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514072
Location:INTRON

Gene Symbol:SDHA
Accession:NM_004168
Location:INTRON

Gene Symbol:SDHA
Accession:XM_047417467
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000456309 CLINVAR
dbSNP (RS) rs1060505010 CLINVAR
MedGen C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR