RGD:8607537 Rat Genome Database

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Variant: RGD:8607537 -  Homo sapiens

RGD ID: 8607537
RS ID: rs13451
ClinVar ID: CV53863
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 19,207,841
GRCh38 11 19,186,294
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_440:g.29280G>A
NG_011932.2:g.29280G>A
NC_000011.10:g.19186294C>T
NC_000011.9:g.19207841C>T
More... 		03/06/2019 missense variant|synonymous variant likely pathogenic|benign|likely benign|uncertain significance AllHighlyPenetrant; Cardiomyopathies; Dilated cardiomyopathy 1M; Familial hypertrophic cardiomyopathy 12; none provided
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: R to Q (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCSPQSRHAQLPPATLPNSLQSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*

Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037782 CLINVAR
  RCV000246047 CLINVAR
  RCV000371114 CLINVAR
  RCV000710025 CLINVAR
  RCV000860521 CLINVAR
  RCV001170411 CLINVAR
  RCV001354194 CLINVAR
dbSNP (RS) rs13451 CLINVAR
MedGen C0007193 CLINVAR
  C0878544 CLINVAR
  C2677491 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR
SNOMED CT 195021004 CLINVAR
  85898001 CLINVAR