RGD:13489868 Rat Genome Database

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Variant: RGD:13489868 -  Homo sapiens

RGD ID: 13489868
RS ID: rs146290726
ClinVar ID: CV461038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 19,207,877
GRCh38 11 19,186,330
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_440:g.29244C>T
NG_011932.2:g.29244C>T
NC_000011.10:g.19186330G>A
NC_000011.9:g.19207877G>A
More... 		07/18/2017 missense variant|synonymous variant likely benign Dilated cardiomyopathy 1M; Familial hypertrophic cardiomyopathy 12
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*

Gene Symbol:CSRP3
Accession:NM_001369404
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCSPQSRHVQLPPATLPNSLRSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555576 CLINVAR
  RCV002438489 CLINVAR
dbSNP (RS) rs146290726 CLINVAR
MedGen C2677491 CLINVAR
  CN230736 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR