RGD:405230739 Rat Genome Database

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Variant: RGD:405230739 -  Homo sapiens

RGD ID: 405230739
ClinVar ID: CV3070170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFCAB13-DT  ITGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 45,385,022
GRCh38 17 47,307,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000212.3:c.2301+19C>T
LRG_481:g.58815C>T
NG_008332.2:g.58815C>T
NC_000017.11:g.47307656C>T
More... 		10/29/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ITGB3
Accession:NM_000212
Location:INTRON

Gene Symbol:EFCAB13-DT
Accession:NR_110880
Location:INTRON;NON-CODING

Gene Symbol:EFCAB13-DT
Accession:NR_110881
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003734780 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EFCAB13-DT CLINVAR
  ITGB3 CLINVAR
OMIM 173470 CLINVAR