RGD:11546248 Rat Genome Database

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Variant: RGD:11546248 -  Homo sapiens

RGD ID: 11546248
RS ID: rs263978
ClinVar ID: CV249960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,362,992
GRCh38 1 44,897,320
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015864.1:g.94370A>G
NC_000001.11:g.44897320T>C
NC_000001.10:g.45362992T>C
NM_020365.5:c.656+35A>G
More... 		05/11/2021 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:EIF2B3
Accession:XM_047433501
Location:INTRON

Gene Symbol:EIF2B3
Accession:NM_020365
Location:INTRON

Gene Symbol:EIF2B3
Accession:XM_047433500
Location:INTRON

Gene Symbol:EIF2B3
Accession:XM_047433499
Location:INTRON

Gene Symbol:EIF2B3
Accession:NM_001166588
Location:INTRON

Gene Symbol:EIF2B3
Accession:NM_001261418
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000246210 CLINVAR
  RCV001610713 CLINVAR
dbSNP (RS) rs263978 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EIF2B3 CLINVAR
OMIM 606273 CLINVAR