RGD:39457082 Rat Genome Database

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Variant: RGD:39457082 -  Homo sapiens

RGD ID: 39457082
RS ID: rs2035663521
ClinVar ID: CV965629
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 855,564
GRCh38 19 855,564
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.367C>G
LRG_46:g.900C>G
NG_007274.1:g.900C>G
LRG_57:g.8274C>G
More...
08/28/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELANE
Accession:NM_001972
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQVNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001255175 CLINVAR
dbSNP (RS) rs2035663521 CLINVAR
MedGen C1859966 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR
  202700 CLINVAR