RGD:13493609 Rat Genome Database

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Variant: RGD:13493609 -  Homo sapiens

RGD ID: 13493609
RS ID: rs1553255521
ClinVar ID: CV447779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 229,568,754
GRCh38 1 229,433,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_429t1:c.109G>T
LRG_429:g.6090G>T
NG_006672.1:g.6090G>T
NC_000001.11:g.229433007C>A
More... 		04/11/2020 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: V to L (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSILGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:12921789   PMID:15236405   PMID:19562689   PMID:23394784   PMID:25326635   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558312 CLINVAR
dbSNP (RS) rs1553255521 CLINVAR
MedGen C3711389 CLINVAR
NCBI Gene ACTA1 CLINVAR
OMIM 102610 CLINVAR
  161800 CLINVAR
SNOMED CT 702349003 CLINVAR