RGD:13613831 Rat Genome Database

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Variant: RGD:13613831 -  Homo sapiens

RGD ID: 13613831
RS ID: rs1299986010
ClinVar ID: CV524247
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SURF1  
Reference Nucleotide: -
Variant Nucleotide: TCT
Position
Assembly Chr Position
GRCh37 9 136,220,804
GRCh38 9 133,353,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.133353949_133353950insTCT
NC_000009.11:g.136220804_136220805insTCT
NG_008477.1:g.7557_7558insAGA
NM_003172.4:c.324-10_324-9insAGA
More... 		08/16/2017 intron variant uncertain significance Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View
Leigh disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SURF1
Accession:NM_001280787
Location:5UTRS;INTRON

Gene Symbol:SURF1
Accession:NM_003172
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631411 CLINVAR
dbSNP (RS) rs1299986010 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR