RGD:14719370 Rat Genome Database

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Variant: RGD:14719370 -  Homo sapiens

RGD ID: 14719370
RS ID: rs2072062
ClinVar ID: CV668245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 23,540,798
GRCh38 16 23,529,477
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027752.2:g.32899G>A
NM_001308211.1:c.1352+25G>A
NC_000016.10:g.23529477C>T
NC_000016.9:g.23540798C>T
More... 		07/30/2021 intron variant benign Combined oxidative phosphorylation deficiency 12; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EARS2
Accession:XM_011545738
Location:INTRON

Gene Symbol:EARS2
Accession:NM_001083614
Location:INTRON

Gene Symbol:EARS2
Accession:NM_001308211
Location:INTRON

Gene Symbol:EARS2
Accession:NR_003501
Location:INTRON;NON-CODING

Gene Symbol:EARS2
Accession:XR_001751841
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000830744 CLINVAR
  RCV001664452 CLINVAR
dbSNP (RS) rs2072062 CLINVAR
MedGen C3661900 CLINVAR
  C4706421 CLINVAR
NCBI Gene EARS2 CLINVAR
OMIM 612799 CLINVAR
  614924 CLINVAR