rs2078622 Rat Genome Database

Advanced Search (OLGA)

Variant: rs2078622 - Homo sapiens

RGD ID:

11551730

RS ID:

rs2078622

ClinVar ID:

CV251367

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PROM1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	16,037,352
GRCh38	4	16,035,729

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
NC_000004.12:g.16035729C>T NC_000004.11:g.16037352C>T NM_006017.2:c.303+6G>A NG_011696.2:g.53331G>A More...	11/26/2020	intron variant	benign	AllHighlyPenetrant; Bull's eye macular dystrophy; none provided; Retinal degeneration, autosomal recessive, prominin-related; RP 41; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

cone-rod dystrophy 12 (IAGP)

retinal macular dystrophy 2 (IAGP)

retinitis pigmentosa (IAGP)

retinitis pigmentosa 41 (IAGP)

Stargardt Disease 4 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PROM1
Accession:	XM_047416378
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145847
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145850
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513895
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416376
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371408
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371407
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513902
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371406
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416374
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416377
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145851
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145848
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513897
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145852
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_005248195
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513903
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416372
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513894
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_017008800
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145849
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416375
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416373
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416370
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_006017
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_005248196
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513900
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416379
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_006713974
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513893
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000253413	CLINVAR
	RCV000271856	CLINVAR
	RCV000321055	CLINVAR
	RCV000329200	CLINVAR
	RCV000359497	CLINVAR
	RCV000836050	CLINVAR
	RCV001789282	CLINVAR
dbSNP (RS)	rs2078622	CLINVAR
MedGen	C0035334	CLINVAR
	C1863534	CLINVAR
	C2675210	CLINVAR
	C2677516	CLINVAR
	C3661900	CLINVAR
	C4749334	CLINVAR
	CN169374	CLINVAR
NCBI Gene	PROM1	CLINVAR
OMIM	268000	CLINVAR
	603786	CLINVAR
	604365	CLINVAR
	608051	CLINVAR
	612095	CLINVAR
	612657	CLINVAR
SNOMED CT	232050001	CLINVAR
	28835009	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)

Variant: rs2078622 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs2078622 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar