RGD:12840608 Rat Genome Database

Variant: RGD:12840608 - Homo sapiens

RGD ID:

12840608

RS ID:

rs142710671

ClinVar ID:

CV377477

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LARGE1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	34,252,737
GRCh38	22	33,856,749

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
NG_009929.2:g.68680C>T NC_000022.11:g.33856749G>A NC_000022.10:g.34252737G>A NM_004737.4:c.-92C>T More...	02/23/2018	5 prime utr variant\|intron variant	likely benign	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	LARGE1
Accession:	XM_024452303
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	XM_047441605
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	XM_047441602
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	NM_001378624
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	XM_047441600
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	NM_001362949
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	XM_024452302
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	NM_004737
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	NM_001378625
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	XM_047441599
Location:	5UTRS;EXON

Gene Symbol:	LARGE1
Accession:	NM_001362953
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_001362951
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378629
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	XM_047441604
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378627
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_133642
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378628
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378626
Location:	5UTRS;INTRON

Gene Symbol:	LARGE1
Accession:	XR_007067993
Location:	EXON;NON-CODING

Gene Symbol:	LARGE1
Accession:	XR_007067994
Location:	EXON;NON-CODING

Gene Symbol:	LARGE1
Accession:	XM_047441601
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	XM_047441603
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378630
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	XM_011530513
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	NM_001378631
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	XM_047441606
Location:	INTRON

Gene Symbol:	LARGE1
Accession:	XR_002958722
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000431041	CLINVAR
dbSNP (RS)	rs142710671	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LARGE1	CLINVAR
OMIM	603590	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:12840608 - Homo sapiens