RGD:11352006 Rat Genome Database

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Variant: RGD:11352006 -  Homo sapiens

RGD ID: 11352006
RS ID: rs754277797
ClinVar ID: CV243866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELANE  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 855,770
GRCh38 19 855,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_57:g.8480G>C
NG_009627.1:g.8480G>C
NC_000019.10:g.855770G>C
NC_000019.9:g.855770G>C
More... 		12/01/2015 missense variant likely pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ELANE
Accession:NM_001972
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAV
RVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
RNRGIASVLQELNVTVVTSLCRRSNVCTLVSGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000232592 CLINVAR
dbSNP (RS) rs754277797 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ELANE CLINVAR
OMIM 130130 CLINVAR