rs587777386 Rat Genome Database

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Variant: rs587777386 -  Homo sapiens

RGD ID: 8688834
RS ID: rs587777386
ClinVar ID: CV136551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,128,557
GRCh38 2 73,901,430
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.73901430G>A
NC_000002.11:g.74128557G>A
NP_001606.1:p.Arg40His
NG_034140.1:g.13465G>A
More... 		12/20/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity all ages|variable ENTERIC NEUROPATHY, FAMILIAL; INFANTILE VISCERAL MYOPATHY; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5; Megaduodenum and/or megacystis; none provided; Pseudoobstruction idiopathic intestinal; PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC; Visceral myopathy; Visceral neuropathy, familial, autosomal dominant

Variant Details
Variant Transcripts
Gene Symbol:ACTG2
Accession:NM_001615
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPHHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPHHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:23806086   PMID:24088041   PMID:24676022   PMID:25326635   PMID:25741868   PMID:26072522   PMID:26647307   PMID:28422808   PMID:29781137   PMID:31769566   PMID:33294969  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119271 CLINVAR
  RCV000680451 CLINVAR
  RCV000851221 CLINVAR
  RCV001091889 CLINVAR
  RCV001535809 CLINVAR
  RCV002505051 CLINVAR
dbSNP (RS) rs587777386 CLINVAR
MedGen C0238062 CLINVAR
  C1864996 CLINVAR
  C3661900 CLINVAR
  C5542197 CLINVAR
  C5543636 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR
  155310 CLINVAR
  609629 CLINVAR
  619431 CLINVAR
OMIM Allele 102545.0005 CLINVAR