RGD:11349884 Rat Genome Database

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Variant: RGD:11349884 -  Homo sapiens

RGD ID: 11349884
RS ID: rs878855316
ClinVar ID: CV243859
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 855,634
GRCh38 19 855,634
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_57:g.8344G>A
NG_009627.1:g.8344G>A
NC_000019.10:g.855634G>A
NC_000019.9:g.855634G>A
More... 		01/03/2014 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ELANE
Accession:NM_001972
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLDNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000232361 CLINVAR
dbSNP (RS) rs878855316 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR