rs1036443876 Rat Genome Database

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Variant: rs1036443876 -  Homo sapiens

RGD ID: 152116829
RS ID: rs1036443876
ClinVar ID: CV1645814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 136,218,905
GRCh38 9 133,352,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001280787.1:c.506+11A>G
NM_003172.4:c.833+11A>G
NG_008477.1:g.9457A>G
NC_000009.12:g.133352050T>C
More... 		09/06/2023 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)
CV1645814HumanLeigh 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 RCV002175044 CLINVAR
dbSNP (RS) rs1036443876 CLINVAR
MedGen C2931891 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR