RGD:150446503 Rat Genome Database

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Variant: RGD:150446503 -  Homo sapiens

RGD ID: 150446503
RS ID: rs367875841
ClinVar ID: CV1261373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 852,861
GRCh38 19 852,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001972.4:c.68-15C>A
LRG_57:g.5571C>A
NG_009627.1:g.5571C>A
NC_000019.10:g.852861C>A
More... 		03/03/2015 intron variant benign Cyclic hematopoiesis; Neutropenia, severe congenital, 1, autosomal dominant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELANE
Accession:NM_001972
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001680047 CLINVAR
  RCV002073191 CLINVAR
dbSNP (RS) rs367875841 CLINVAR
MedGen C0221023 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  162800 CLINVAR
  202700 CLINVAR
SNOMED CT 191347008 CLINVAR