RGD:405193891 Rat Genome Database

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Variant: RGD:405193891 -  Homo sapiens

RGD ID: 405193891
ClinVar ID: CV3167608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 23,546,390
GRCh38 16 23,535,069
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.777C>T
NM_001308211.1:c.777C>T
NM_133451.1:c.777C>T
NG_027752.2:g.27307C>T
More... 		05/22/2023 non-coding transcript variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003860014 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EARS2 CLINVAR
OMIM 612799 CLINVAR