RGD:12885428 Rat Genome Database

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Variant: RGD:12885428 -  Homo sapiens

RGD ID: 12885428
RS ID: rs201972549
ClinVar ID: CV395483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 225,527
GRCh38 5 225,412
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.12172T>C
NC_000005.10:g.225412T>C
NC_000005.9:g.225527T>C
NM_001294332.2:c.313-471T>C
More... 		03/15/2022 intron variant likely benign|uncertain significance childhood <1 / 1 000 000 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

Variant Details
Variant Transcripts
Gene Symbol:SDHA
Accession:XM_011514072
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001330758
Location:INTRON

Gene Symbol:SDHA
Accession:NM_001294332
Location:INTRON

Gene Symbol:SDHA
Accession:XM_047417467
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514073
Location:INTRON

Gene Symbol:SDHA
Accession:NM_004168
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 RCV000465323 CLINVAR
  RCV002323758 CLINVAR
  RCV003912813 CLINVAR
dbSNP (RS) rs201972549 CLINVAR
MedGen C0027672 CLINVAR
  C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR
SNOMED CT 699346009 CLINVAR