RGD:11626620 Rat Genome Database

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Variant: RGD:11626620 -  Homo sapiens

RGD ID: 11626620
RS ID: rs1050216
ClinVar ID: CV344924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 14,111,606
GRCh38 17 14,208,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008034.1:g.143888T>C
NC_000017.11:g.14208289T>C
NC_000017.10:g.14111606T>C
NM_001303.4:c.*1076T>C
More... 		05/12/2021 3 prime utr variant benign 1-9 / 100 000 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 RCV000266831 CLINVAR
  RCV000361388 CLINVAR
  RCV001613030 CLINVAR
dbSNP (RS) rs1050216 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