RGD:10054785 Rat Genome Database

Variant: RGD:10054785 - Homo sapiens

RGD ID:

10054785

RS ID:

rs794728033

ClinVar ID:

CV197390

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

ACTA2 ACTA2-AS1

Reference Nucleotide:

AGA

Variant Nucleotide:

---

Position

Assembly	Chr	Position
GRCh37	10	90,697,823 - 90,697,826
GRCh38	10	88,938,066 - 88,938,069

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001613.2:c.983_985delAGA NP_001135417.1:p.Lys328del NP_001604.1:p.Lys328del LRG_781p1:p.Lys328del More...	05/11/2023	inframe_deletion\|inframe_variant	uncertain significance	FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

Disease Annotations Click to see Annotation Detail View

Familial Thoracic Aortic Aneurysm 6 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACTA2
Accession:	NM_001613
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406467
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	286

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE YDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406469
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	286

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE YDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406471
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	265

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGG TTMYPGIADRMQKEITALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406468
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	286

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQE YDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001141945
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406463
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406464
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001320855
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406462
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	329

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2
Accession:	NM_001406466
Location:	EXON
Amino Acid Prediction:	I to K (nonsynonymous)
Amino Acid Position:	292

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTE RGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIH ETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKKKIIAPPERKYSVWIGGSILASLSTFQQM WISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTA2-AS1
Accession:	NR_125373
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003633069	CLINVAR
dbSNP (RS)	rs794728033	CLINVAR
MedGen	C2673186	CLINVAR
NCBI Gene	ACTA2	CLINVAR
	ACTA2-AS1	CLINVAR
OMIM	102620	CLINVAR
	611788	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Variant: RGD:10054785 - Homo sapiens

Imported Disease Annotations - ClinVar