RGD:402506212 Rat Genome Database

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Variant: RGD:402506212 -  Homo sapiens

RGD ID: 402506212
ClinVar ID: CV2896942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 136,219,538
GRCh38 9 133,352,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001280787.1:c.261+11T>A
NM_003172.4:c.588+11T>A
NG_008477.2:g.8804T>A
NG_008477.1:g.8824T>A
More... 		09/07/2023 intron variant likely benign Leigh Disease; LEIGH SYNDROME, NUCLEAR; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2896942HumanLeigh disease  IAGP 8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:28492532
Gene Symbol:SURF1
Accession:NM_001280787
Location:INTRON

Gene Symbol:SURF1
Accession:NM_003172
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003509299 CLINVAR
MedGen C2931891 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR