RGD:14742310 Rat Genome Database

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Variant: RGD:14742310 -  Homo sapiens

RGD ID: 14742310
RS ID: rs1597021370
ClinVar ID: CV667439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 23,556,028
GRCh38 16 23,544,707
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001083614.2:c.296-4C>G
NM_001308211.1:c.296-4C>G
NG_027752.1:g.17669C>G
NG_027752.2:g.17669C>G
More... 		06/29/2018 intron variant likely benign none provided

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

Gene Symbol:EARS2
Accession:NM_001308211
Location:INTRON

Gene Symbol:EARS2
Accession:NM_001083614
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000841298 CLINVAR
dbSNP (RS) rs1597021370 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EARS2 CLINVAR
OMIM 612799 CLINVAR