RGD:8607528 Rat Genome Database

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Variant: RGD:8607528 -  Homo sapiens

RGD ID: 8607528
RS ID: rs145300736
ClinVar ID: CV53854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 19,209,816
GRCh38 11 19,188,269
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.148G>A
LRG_440:g.27305G>A
NG_011932.2:g.27305G>A
NC_000011.10:g.19188269C>T
More... 		11/14/2021 intron variant|missense|missense variant uncertain significance AllHighlyPenetrant; 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: A to T (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVTAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*

Gene Symbol:CSRP3
Accession:NM_001369404
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20474083   PMID:24033266   PMID:25741868   PMID:27532257   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037773 CLINVAR
  RCV000653691 CLINVAR
  RCV003480040 CLINVAR
dbSNP (RS) rs145300736 CLINVAR
MedGen C2677491 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR
  607482 CLINVAR
  612124 CLINVAR