RGD:127314090 Rat Genome Database

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Variant: RGD:127314090 -  Homo sapiens

RGD ID: 127314090
RS ID: rs200050022
ClinVar ID: CV1128271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 855,689
GRCh38 19 855,689
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.492G>C
LRG_46:g.1025G>C
LRG_57:g.8399G>C
NG_007274.1:g.1025G>C
More... 		09/23/2020 synonymous variant likely benign 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:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001796504 CLINVAR
dbSNP (RS) rs200050022 CLINVAR
MedGen C0221023 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  162800 CLINVAR
  202700 CLINVAR
SNOMED CT 191347008 CLINVAR