rs1836590086 Rat Genome Database

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Variant: rs1836590086 -  Homo sapiens

RGD ID: 151713765
RS ID: rs1836590086
ClinVar ID: CV1451154
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SURF1  
Reference Nucleotide: CGCAGCCCCAGCTGCAA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 136,223,296 - 136,223,313
GRCh38 9 133,356,420 - 133,356,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008477.1:g.5051_5067del
NC_000009.11:g.136223302_136223318del
NM_001280787.1:c.-257_-241del
NM_003172.4:c.19_35del
More... 		09/01/2021 5 prime utr variant pathogenic 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)
CV1451154HumanLeigh disease  IAGP 8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:10443880 more ...


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PMID:10443880   PMID:22488715   PMID:27848944   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002002511 CLINVAR
dbSNP (RS) rs1836590086 CLINVAR
MedGen C2931891 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR