RGD:151787793 Rat Genome Database

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Variant: RGD:151787793 -  Homo sapiens

RGD ID: 151787793
RS ID: rs200752339
ClinVar ID: CV1476958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 855,556
GRCh38 19 855,556
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.367-8C>A
LRG_46:g.892C>A
LRG_57:g.8266C>A
NG_009627.1:g.8266C>A
More... 		09/17/2021 intron variant pathogenic Cyclic hematopoiesis; Neutropenia, severe congenital, 1, autosomal dominant
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:21425445   PMID:28492532   PMID:30171085  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001896973 CLINVAR
dbSNP (RS) rs200752339 CLINVAR
MedGen C0221023 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  162800 CLINVAR
  202700 CLINVAR
SNOMED CT 191347008 CLINVAR