rs587777383 Rat Genome Database

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Variant: rs587777383 -  Homo sapiens

RGD ID: 8688829
RS ID: rs587777383
ClinVar ID: CV136546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,136,257
GRCh38 2 73,909,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000002.12:g.73909130C>A
NC_000002.11:g.74136257C>A
NP_001606.1:p.Arg148Ser
NG_034140.1:g.21165C>A
More... 		12/21/2023 missense variant pathogenic all ages|variable INFANTILE VISCERAL MYOPATHY; Megaduodenum and/or megacystis; Pseudoobstruction idiopathic intestinal; Visceral myopathy

Variant Details
Variant Transcripts
Gene Symbol:ACTG2
Accession:NM_001615
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGSTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGSTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:22960657   PMID:24337657   PMID:24676022   PMID:24777424   PMID:25741868   PMID:25998219   PMID:26072522   PMID:26647307   PMID:26813947   PMID:32814715  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119266 CLINVAR
  RCV000210361 CLINVAR
dbSNP (RS) rs587777383 CLINVAR
MedGen C0238062 CLINVAR
  C5542197 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR
  155310 CLINVAR
OMIM Allele 102545.0001 CLINVAR