RGD:13535031 Rat Genome Database

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Variant: RGD:13535031 -  Homo sapiens

RGD ID: 13535031
RS ID: rs151177504
ClinVar ID: CV503561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 19,213,975
GRCh38 11 19,192,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001356333.1:p.Gly7=
LRG_440t1:c.21C>T
NP_003467.1:p.Gly7=
NC_000011.9:g.19213975G>A
More... 		12/05/2018 synonymous variant likely benign Dilated cardiomyopathy 1M; Familial hypertrophic cardiomyopathy 12; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*

Gene Symbol:CSRP3
Accession:NM_001369404
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCSPQSRHAQLPPATLPNSLRSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000619361 CLINVAR
  RCV000866561 CLINVAR
  RCV001697536 CLINVAR
dbSNP (RS) rs151177504 CLINVAR
MedGen C2677491 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR