RGD:11547807 Rat Genome Database

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Variant: RGD:11547807 -  Homo sapiens

RGD ID: 11547807
RS ID: rs886038855
ClinVar ID: CV258674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 90,708,605
GRCh38 10 88,948,848
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_781t1:c.83C>T
LRG_781:g.47543C>T
NG_011541.1:g.47543C>T
NC_000010.11:g.88948848G>A
More...
07/23/2021 missense variant uncertain significance FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA2
Accession:NM_001406467
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406468
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406466
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTE
RGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIH
ETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQM
WISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406463
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406462
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406469
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406471
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGG
TTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001613
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001320855
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001141945
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406464
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDVPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694475 CLINVAR
  RCV001179389 CLINVAR
dbSNP (RS) rs886038855 CLINVAR
MedGen C2673186 CLINVAR
  C4707243 CLINVAR
NCBI Gene ACTA2 CLINVAR
OMIM 102620 CLINVAR
  611788 CLINVAR