RGD:28904288 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28904288 -  Homo sapiens

RGD ID: 28904288
RS ID: rs190369277
ClinVar ID: CV866724
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX15  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 101,472,753
GRCh38 10 99,712,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_078470.6:c.*1591C>T
NM_001372027.1:c.*1695C>T
NM_001320975.2:c.*1772C>T
NM_004376.7:c.*418C>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:COX15
Accession:NM_078470
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_004376
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001320976
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001320975
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372026
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372028
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372027
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372024
Location:3UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372025
Location:3UTRS;EXON

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

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

Gene Symbol:COX15
Accession:NM_001320974
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001105513 CLINVAR
dbSNP (RS) rs190369277 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene COX15 CLINVAR
OMIM 256000 CLINVAR
  603646 CLINVAR
SNOMED CT 29570005 CLINVAR