RGD:13528188 Rat Genome Database

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Variant: RGD:13528188 -  Homo sapiens

RGD ID: 13528188
RS ID: rs777211110
ClinVar ID: CV510267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 19,209,756
GRCh38 11 19,188,209
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_440:g.27365G>T
NM_003476.3:c.208G>T
NP_003467.1:p.Gly70Trp
NM_003476.5:c.208G>T
More... 		10/18/2021 intron variant|missense variant uncertain significance 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 W (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKWIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*

Gene Symbol:CSRP3
Accession:NM_001369404
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:33297573   PMID:35626289  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000620585 CLINVAR
  RCV001529951 CLINVAR
  RCV001855288 CLINVAR
dbSNP (RS) rs777211110 CLINVAR
MedGen C2677491 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR