RGD:11349566 Rat Genome Database

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Variant: RGD:11349566 -  Homo sapiens

RGD ID: 11349566
RS ID: rs367663236
ClinVar ID: CV243863
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 855,765
GRCh38 19 855,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_57:g.8475G>A
NG_009627.1:g.8475G>A
NC_000019.10:g.855765G>A
NC_000019.9:g.855765G>A
More... 		09/02/2021 missense variant likely pathogenic|likely benign|uncertain significance AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLMRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000231022 CLINVAR
  RCV001820785 CLINVAR
  RCV002262842 CLINVAR
  RCV003765461 CLINVAR
dbSNP (RS) rs367663236 CLINVAR
MedGen C0221023 CLINVAR
  C3661900 CLINVAR
  C3890737 CLINVAR
  CN169374 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  162800 CLINVAR
  202700 CLINVAR
SNOMED CT 191347008 CLINVAR