RGD:38493336 Rat Genome Database

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Variant: RGD:38493336 -  Homo sapiens

RGD ID: 38493336
RS ID: rs1659943773
ClinVar ID: CV921855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 229,567,592
GRCh38 1 229,431,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_429t1:c.866T>A
NM_001100.4:c.866T>A
LRG_429:g.7252T>A
NG_006672.1:g.7252T>A
More... 		07/30/2019 missense variant uncertain significance CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Nemaline myopathy 3, with intranuclear rods; Nemaline myopathy caused by mutation in the alpha-actin gene; Nemaline myopathy type 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA1
Accession:NM_001100
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDNDIRKDLYANNVMSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001224045 CLINVAR
dbSNP (RS) rs1659943773 CLINVAR
MedGen C3711389 CLINVAR
NCBI Gene ACTA1 CLINVAR
OMIM 102610 CLINVAR
  161800 CLINVAR
SNOMED CT 702349003 CLINVAR