RGD:11647179 Rat Genome Database

Variant: RGD:11647179 - Homo sapiens

RGD ID:

11647179

RS ID:

rs886045358

ClinVar ID:

CV277434

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LMNA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	156,084,568
GRCh38	1	156,114,777

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	Age of Onset	Prevalence	Trait Synonyms
LRG_254t1:c.-142C>A LRG_254:g.37205C>A NG_008692.2:g.37205C>A NC_000001.11:g.156114777C>A More...	06/14/2016	5 prime utr variant	uncertain significance	antenatal\|infancy	<1 / 1 000 000	Charcot-Marie-Tooth, Type 2; Congenital muscular dystrophy, LMNA-related; Fetal hypokinesia sequence due to restrictive dermopathy; Humeroperoneal neuromuscular disease, (formerly); Hyperkeratosis-contracture syndrome; Lamin A-related Congenital Muscular Dystrophy; Mandibuloacral dysostosis; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Progerin-producing progeroid laminopathy; Restrictive dermopathy; Restrictive dermopathy, lethal; Scapuloperoneal syndrome, X-linked (formerly)

Disease Annotations Click to see Annotation Detail View

autosomal recessive limb-girdle muscular dystrophy (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

congenital muscular dystrophy due to LMNA mutation (IAGP)

dilated cardiomyopathy (IAGP)

Emery-Dreifuss muscular dystrophy (IAGP)

familial partial lipodystrophy (IAGP)

mandibuloacral dysplasia (IAGP)

progeria (IAGP)

restrictive dermopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	LMNA
Accession:	NM_005572
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001282625
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406983
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406984
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406999
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406990
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407002
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407000
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406986
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001282626
Location:	5UTRS;EXON

Gene Symbol:
Accession:
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406995
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406985
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406992
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406994
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406991
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407001
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_170707
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_170708
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406993
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001407003
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001406997
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001282624
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001406988
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001406998
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001406987
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001406996
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001257374
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	LMNA
Accession:	NM_001406989
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000275157	CLINVAR
	RCV000279052	CLINVAR
	RCV000287177	CLINVAR
	RCV000290029	CLINVAR
	RCV000318600	CLINVAR
	RCV000334255	CLINVAR
	RCV000367390	CLINVAR
	RCV000375572	CLINVAR
	RCV000379268	CLINVAR
	RCV000393819	CLINVAR
dbSNP (RS)	rs886045358	CLINVAR
MedGen	C0033300	CLINVAR
	C0270914	CLINVAR
	C0271694	CLINVAR
	C0406585	CLINVAR
	C0410189	CLINVAR
	C0432291	CLINVAR
	C2750785	CLINVAR
	CN239184	CLINVAR
	CN239310	CLINVAR
	CN239352	CLINVAR
NCBI Gene	LMNA	CLINVAR
OMIM	150330	CLINVAR
	176670	CLINVAR
	613205	CLINVAR
SNOMED CT	109419009	CLINVAR
	111508004	CLINVAR
	238870004	CLINVAR
	400128006	CLINVAR
	49292002	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:11647179 - Homo sapiens

Imported Disease Annotations - ClinVar