RGD:28899741 Rat Genome Database

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Variant: RGD:28899741 -  Homo sapiens

RGD ID: 28899741
RS ID: rs114201692
ClinVar ID: CV868560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX15  ENTPD7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 101,470,470
GRCh38 10 99,710,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020354.5:c.*6030G>A
LRG_406t2:c.*2701C>T
NM_001349962.2:c.*6030G>A
NM_001320974.2:c.1101+5635C>T
More... 		01/13/2018 3 prime utr 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:ENTPD7
Accession:NM_020354
Location:3UTRS;EXON

Gene Symbol:ENTPD7
Accession:NM_001349963
Location:3UTRS;EXON

Gene Symbol:ENTPD7
Accession:NM_001349962
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:XM_006717634
Location:3UTRS;INTRON

Gene Symbol:COX15
Accession:NM_078470
Location:INTRON

Gene Symbol:COX15
Accession:NM_004376
Location:INTRON

Gene Symbol:COX15
Accession:NM_001320975
Location:INTRON

Gene Symbol:COX15
Accession:NM_001372028
Location:INTRON

Gene Symbol:COX15
Accession:NM_001320976
Location:INTRON

Gene Symbol:COX15
Accession:NM_001372027
Location:INTRON

Gene Symbol:COX15
Accession:NM_001372025
Location:INTRON

Gene Symbol:COX15
Accession:NM_001372026
Location:INTRON

Gene Symbol:COX15
Accession:NM_001372024
Location:INTRON

Gene Symbol:COX15
Accession:NM_001320974
Location:INTRON

Gene Symbol:COX15
Accession:NR_164009
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001103499 CLINVAR
dbSNP (RS) rs114201692 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene COX15 CLINVAR
  ENTPD7 CLINVAR
OMIM 256000 CLINVAR
  603646 CLINVAR
  616753 CLINVAR
SNOMED CT 29570005 CLINVAR