RGD:405012463 Rat Genome Database

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Variant: RGD:405012463 -  Homo sapiens

RGD ID: 405012463
ClinVar ID: CV3128194
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SURF1  
Reference Nucleotide: AT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 136,220,592 - 136,220,594
GRCh38 9 133,353,737 - 133,353,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001280787.1:c.188+12_188+13del
NM_003172.4:c.515+12_515+13del
NG_008477.2:g.7750_7751del
NG_008477.1:g.7770_7771del
More... 		12/01/2023 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)
CV3128194HumanLeigh disease  IAGP 8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003829074 CLINVAR
MedGen C2931891 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR