RGD:14711502 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14711502 -  Homo sapiens

RGD ID: 14711502
RS ID: rs767835921
ClinVar ID: CV645835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 38,785,060
GRCh38 17 40,628,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003079.5:c.1213C>G
NC_000017.10:g.38785060G>C
NM_003079.4:c.1213C>G
NP_003070.3:p.Pro405Ala
More...
11/04/2018 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Meningioma, familial, susceptibility to; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCE1
Accession:NM_003079
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKV
WDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQR
QSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVP
EEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPP
TDPIAEDEKKE*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000809958 CLINVAR
  RCV002352399 CLINVAR
dbSNP (RS) rs767835921 CLINVAR
MedGen C0027672 CLINVAR
  C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR
SNOMED CT 699346009 CLINVAR