RGD:8607540 Rat Genome Database

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Variant: RGD:8607540 -  Homo sapiens

RGD ID: 8607540
RS ID: rs397516857
ClinVar ID: CV53866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSRP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 19,213,949
GRCh38 11 19,192,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_440:g.23172C>T
NG_011932.2:g.23172C>T
NC_000011.10:g.19192402G>A
NC_000011.9:g.19213949G>A
More... 		07/26/2010 missense|missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CSRP3
Accession:NM_001369404
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKIVYHAEEIQCNGRSFHKTCFHCSPQSRHAQLPPATLPNSLRSLESPRSALDVASQSMLLRRLWEV
ASLGTRPVSAVPSVGRVWSPQMSLTKMGNFIAKFAMPKILAPRVLGLEALHNKWKRKNEEVRRFSDFLRA*

Gene Symbol:CSRP3
Accession:NM_003476
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNWGGGAKCGACEKIVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCL
STDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVT
DKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037785 CLINVAR
dbSNP (RS) rs397516857 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CSRP3 CLINVAR
OMIM 600824 CLINVAR