RGD:38598683 Rat Genome Database

Variant: RGD:38598683 - Homo sapiens

RGD ID:

38598683

RS ID:

rs528233991

ClinVar ID:

CV887746

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MYLK MYLK-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	123,332,879
GRCh38	3	123,614,032

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_001321309.2:c.73A>C NM_053025.4:c.73A>C NM_053026.4:c.73A>C NM_053027.4:c.73A>C More...	01/13/2018	3 prime utr variant	uncertain significance	AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM

Disease Annotations Click to see Annotation Detail View

Familial Thoracic Aortic Aneurysm 7 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MYLK
Accession:	NM_053026
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_011512860
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_053025
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_053032
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_017006471
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448188
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_024453534
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_053031
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_011512861
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_001321309
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_017006473
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_024453537
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_053028
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448182
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_024453532
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448184
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448183
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_017006472
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448186
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	NM_053027
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_017006469
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_017006470
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448187
Location:	3UTRS;EXON

Gene Symbol:	MYLK
Accession:	XM_047448185
Location:	3UTRS;EXON

Gene Symbol:	MYLK-AS1
Accession:	NR_038266
Location:	INTRON;NON-CODING

Gene Symbol:	MYLK-AS1
Accession:	NR_121654
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001253967	CLINVAR
dbSNP (RS)	rs528233991	CLINVAR
MedGen	C3151077	CLINVAR
NCBI Gene	MYLK	CLINVAR
	MYLK-AS1	CLINVAR
OMIM	600922	CLINVAR
	613780	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)

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Variant: RGD:38598683 - Homo sapiens

Imported Disease Annotations - ClinVar