rs502268 Rat Genome Database

Advanced Search (OLGA)

Variant: rs502268 - Homo sapiens

RGD ID:

11545541

RS ID:

rs502268

ClinVar ID:

CV252203

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SYNE1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	152,768,796
GRCh38	6	152,447,661

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_182961.4:c.3505-39A>C NG_012855.2:g.194739A>C NM_033071.3:c.3526-39A>C LRG_427t2:c.3526-39A>C More...	06/14/2018	intron variant	benign	AllHighlyPenetrant; ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE; ATAXIA, RECESSIVE, OF BEAUCE; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES; none provided; Spinocerebellar ataxia, autosomal recessive 8; SYNE1-Related Autosomal Recessive Cerebellar Ataxia

Disease Annotations Click to see Annotation Detail View

arthrogryposis multiplex congenita-3 (IAGP)

autosomal dominant Emery-Dreifuss muscular dystrophy 4 (IAGP)

autosomal recessive spinocerebellar ataxia 8 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SYNE1
Accession:	XM_006715413
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418513
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715420
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715415
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_011535641
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010617
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	NM_001347702
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418504
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	NM_033071
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715417
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010614
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418503
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418510
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715422
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715410
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010619
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418501
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418507
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715411
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715425
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010618
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715407
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_011535642
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715421
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715412
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715423
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010610
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010613
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010616
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010612
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	NM_182961
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715409
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715424
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_011535644
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010609
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418508
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418505
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418512
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_011535645
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010608
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010611
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418511
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418506
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418502
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715414
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715416
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_006715408
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_017010615
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	NM_001347701
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_047418509
Location:	INTRON

Gene Symbol:	SYNE1
Accession:	XM_011535643
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000245277	CLINVAR
	RCV000829769	CLINVAR
	RCV001815291	CLINVAR
	RCV001815292	CLINVAR
	RCV001815293	CLINVAR
dbSNP (RS)	rs502268	CLINVAR
MedGen	C1853116	CLINVAR
	C2751807	CLINVAR
	C3661900	CLINVAR
	C5193121	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SYNE1	CLINVAR
OMIM	608441	CLINVAR
	610743	CLINVAR
	612998	CLINVAR
	618484	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: rs502268 - Homo sapiens

Imported Disease Annotations - ClinVar