RGD:8600934 Rat Genome Database

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Variant: RGD:8600934 -  Homo sapiens

RGD ID: 8600934
RS ID: rs121909526
ClinVar ID: CV33325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 229,568,343
GRCh38 1 229,432,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_006672.1:g.6501C>G
NC_000001.11:g.229432596G>C
NC_000001.10:g.229568343G>C
NP_001091.1:p.Ile138Met
More... 		10/16/2023 missense|missense variant pathogenic all ages|variable 1-9 / 100 000 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 M (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAMQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:10838259   PMID:11333380   PMID:15226407   PMID:19562689   PMID:22825594   PMID:23294764   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019948 CLINVAR
dbSNP (RS) rs121909526 CLINVAR
MedGen C3711389 CLINVAR
NCBI Gene ACTA1 CLINVAR
OMIM 102610 CLINVAR
  161800 CLINVAR
OMIM Allele 102610.0008 CLINVAR
SNOMED CT 702349003 CLINVAR