RGD:28894832 Rat Genome Database

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Variant: RGD:28894832 -  Homo sapiens

RGD ID: 28894832
RS ID: rs116445114
ClinVar ID: CV876800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 14,111,609
GRCh38 17 14,208,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001303.4:c.*1079G>A
NM_001303.3:c.*1079G>A
NG_008034.1:g.143891G>A
NC_000017.11:g.14208292G>A
More... 		05/11/2021 3 prime utr variant benign|likely benign|uncertain significance Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; Cytochrome-c oxidase deficiency; Deficiency of mitochondrial respiratory chain complex4; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Mitochondrial complex IV deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COX10
Accession:NM_001303
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122250 CLINVAR
  RCV001122251 CLINVAR
  RCV001779119 CLINVAR
dbSNP (RS) rs116445114 CLINVAR
MedGen C0023264 CLINVAR
  C3661900 CLINVAR
  C5435656 CLINVAR
NCBI Gene COX10 CLINVAR
OMIM 220110 CLINVAR
  256000 CLINVAR
  602125 CLINVAR
SNOMED CT 29570005 CLINVAR
  67434000 CLINVAR