rs1573468797 Rat Genome Database

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Variant: rs1573468797 -  Homo sapiens

RGD ID: 14702720
RS ID: rs1573468797
ClinVar ID: CV653854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 74,135,881
GRCh38 2 73,908,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.73908754C>G
NM_001615.3:c.337C>G
NM_001199893.2:c.208C>G
NM_001615.4:c.337C>G
More... 		01/01/2016 missense variant likely pathogenic 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: P to A (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNAKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNAKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000824849 CLINVAR
dbSNP (RS) rs1573468797 CLINVAR
MedGen C5542197 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR
  155310 CLINVAR