RGD:15167473 Rat Genome Database

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Variant: RGD:15167473 -  Homo sapiens

RGD ID: 15167473
RS ID: rs77411392
ClinVar ID: CV729330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NXF5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 101,092,486
GRCh38 X 101,837,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_028089.1:n.1420C>T
NR_159739.1:n.1420C>T
NC_000023.11:g.101837514G>A
NC_000023.10:g.101092486G>A
More... 		12/31/2019 missense variant|non-coding transcript variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NXF5
Accession:NR_159736
Location:EXON;NON-CODING

Gene Symbol:NXF5
Accession:NR_159739
Location:EXON;NON-CODING

Gene Symbol:NXF5
Accession:NR_159737
Location:EXON;NON-CODING

Gene Symbol:NXF5
Accession:NR_028089
Location:EXON;NON-CODING

Gene Symbol:NXF5
Accession:NR_159738
Location:EXON;NON-CODING

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000882854 CLINVAR
  RCV003940464 CLINVAR
dbSNP (RS) rs77411392 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NXF5 CLINVAR
OMIM 300319 CLINVAR