RGD:12885806 Rat Genome Database

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Variant: RGD:12885806 -  Homo sapiens

RGD ID: 12885806
RS ID: rs1060501395
ClinVar ID: CV401990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 38,792,703
GRCh38 17 40,636,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_032163.1:g.16401C>T
NC_000017.11:g.40636451G>A
NC_000017.10:g.38792703G>A
NP_003070.3:p.Arg105Ter
More... 		08/15/2016 nonsense pathogenic all ages Meningioma, familial, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCE1
Accession:NM_003079
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKV
WDQVKASNPDLKLWEIGKIIGGMW*DLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQR
QSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVP
EEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPP
TDPIPEDEKKE*
Variant Samples
Additional References at PubMed
PMID:23377182   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000466082 CLINVAR
dbSNP (RS) rs1060501395 CLINVAR
MedGen C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR