RGD:15193402 Rat Genome Database

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Variant: RGD:15193402 -  Homo sapiens

RGD ID: 15193402
RS ID: rs114234573
ClinVar ID: CV730174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA50  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 113,442,798
GRCh38 3 113,723,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308445.2:c.142+8A>G
NM_025146.4:c.145+8A>G
NC_000003.12:g.113723951T>C
NC_000003.11:g.113442798T>C
More... 		07/23/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NAA50
Accession:NM_001308445
Location:INTRON

Gene Symbol:NAA50
Accession:NM_025146
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888936 CLINVAR
  RCV003930738 CLINVAR
dbSNP (RS) rs114234573 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAA50 CLINVAR
OMIM 610834 CLINVAR