RGD:12884958 Rat Genome Database

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Variant: RGD:12884958 -  Homo sapiens

RGD ID: 12884958
RS ID: rs45531937
ClinVar ID: CV398528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 19,213,974
GRCh38 11 19,192,427
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_440:g.23147G>A
NG_011932.2:g.23147G>A
NC_000011.10:g.19192427C>T
NC_000011.9:g.19213974C>T
More... 		05/04/2021 missense variant uncertain significance all ages 1-9 / 100 000 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_001369404
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGTKCGACEKTVYHAEEIQCNGRSFHKTCFHCSPQSRHAQLPPATLPNSLRSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*

Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGTKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000464452 CLINVAR
  RCV001591061 CLINVAR
dbSNP (RS) rs45531937 CLINVAR
MedGen C2677491 CLINVAR
  C3661900 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR