RGD:14393594 Rat Genome Database

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Variant: RGD:14393594 -  Homo sapiens

RGD ID: 14393594
RS ID: rs769123461
ClinVar ID: CV610151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 853,272
GRCh38 19 853,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.853272G>T
LRG_57t1:c.235G>T
NM_001972.4:c.235G>T
LRG_57:g.5982G>T
More... 		03/30/2021 missense variant uncertain significance 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: A to S (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRSV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000756070 CLINVAR
  RCV002536559 CLINVAR
dbSNP (RS) rs769123461 CLINVAR
MedGen C0221023 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  162800 CLINVAR
  202700 CLINVAR
SNOMED CT 191347008 CLINVAR