RGD:26885328 Rat Genome Database

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Variant: RGD:26885328 -  Homo sapiens

RGD ID: 26885328
RS ID: rs1431565691
ClinVar ID: CV838185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 19,213,979
GRCh38 11 19,192,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003476.4:c.17G>A
NP_001356333.1:p.Gly6Glu
NP_003467.1:p.Gly6Glu
LRG_440:g.23142G>A
More... 		02/05/2019 missense variant uncertain significance Cardiomyopathies; Dilated cardiomyopathy 1M; Familial hypertrophic cardiomyopathy 12
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CSRP3
Accession:NM_001369404
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGEGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCSPQSRHAQLPPATLPNSLRSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*

Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGEGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001065389 CLINVAR
  RCV001170941 CLINVAR
dbSNP (RS) rs1431565691 CLINVAR
MedGen C0878544 CLINVAR
  C2677491 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR
SNOMED CT 85898001 CLINVAR