rs1553396458 Rat Genome Database

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Variant: rs1553396458 -  Homo sapiens

RGD ID: 13517072
RS ID: rs1553396458
ClinVar ID: CV486697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,141,825
GRCh38 2 73,914,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034140.1:g.26733G>A
NC_000002.11:g.74141825G>A
NP_001606.1:p.Arg211Gln
NC_000002.12:g.73914698G>A
More... 		11/28/2023 missense variant pathogenic|likely pathogenic|uncertain significance ACTG2-related condition; Infantile visceral myopathy; Megaduodenum and/or megacystis; none provided; Pseudoobstruction idiopathic intestinal; Visceral myopathy

Variant Details
Variant Transcripts
Gene Symbol:ACTG2
Accession:NM_001615
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVQDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIVQDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26072522   PMID:31769566  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000585773 CLINVAR
  RCV003318602 CLINVAR
  RCV004527668 CLINVAR
dbSNP (RS) rs1553396458 CLINVAR
MedGen C3661900 CLINVAR
  C5542197 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR
  155310 CLINVAR