RGD:13607737 Rat Genome Database

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Variant: RGD:13607737 -  Homo sapiens

RGD ID: 13607737
RS ID: rs1553255506
ClinVar ID: CV515614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 229,568,611
GRCh38 1 229,432,864
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001100.4:c.146T>G
NP_001091.1:p.Met49Arg
NC_000001.10:g.229568611A>C
NM_001100.3:c.146T>G
More... 		12/18/2017 missense variant pathogenic 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: M to R (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGRGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:19562689   PMID:20303757   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000639669 CLINVAR
dbSNP (RS) rs1553255506 CLINVAR
MedGen C3711389 CLINVAR
NCBI Gene ACTA1 CLINVAR
OMIM 102610 CLINVAR
  161800 CLINVAR
SNOMED CT 702349003 CLINVAR