RGD:11625461 Rat Genome Database

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Variant: RGD:11625461 -  Homo sapiens

RGD ID: 11625461
RS ID: rs113477773
ClinVar ID: CV342491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  GGA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 23,534,194
GRCh38 16 23,522,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.23522873T>C
NC_000016.9:g.23534194T>C
NG_027752.2:g.39503A>G
NM_001083614.1:c.*1498A>G
More... 		01/13/2018 3 prime utr variant|non-coding transcript variant benign|uncertain significance Combined oxidative phosphorylation deficiency 12; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EARS2
Accession:NM_001083614
Location:3UTRS;EXON

Gene Symbol:EARS2
Accession:XM_011545738
Location:3UTRS;EXON

Gene Symbol:GGA2
Accession:XM_047433801
Location:5UTRS;EXON

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

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

Gene Symbol:GGA2
Accession:XM_047433802
Location:INTRON

Gene Symbol:EARS2
Accession:NM_001308211
Location:INTRON

Gene Symbol:GGA2
Accession:NM_015044
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000398896 CLINVAR
dbSNP (RS) rs113477773 CLINVAR
MedGen C4706421 CLINVAR
NCBI Gene EARS2 CLINVAR
  GGA2 CLINVAR
OMIM 606005 CLINVAR
  612799 CLINVAR
  614924 CLINVAR