rs1730695660 Rat Genome Database

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Variant: rs1730695660 - Homo sapiens

RGD ID:

151826157

RS ID:

rs1730695660

ClinVar ID:

CV1425829

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PROM1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	16,025,981
GRCh38	4	16,024,358

JBrowse:

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Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001145847.2:c.604C>T NM_001145848.2:c.604C>T NM_001145851.2:c.604C>T NM_001145852.2:c.604C>T More...	09/27/2022	nonsense	pathogenic	none provided

Variant Details

Variant Transcripts

Gene Symbol:	PROM1
Accession:	NM_001145850
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513902
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145851
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513894
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_006017
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416377
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416379
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416375
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416373
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145848
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145852
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_005248195
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_017008800
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416370
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513895
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_006713974
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513903
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416374
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513897
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371408
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371406
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416378
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_005248196
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513900
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145847
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001371407
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416372
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_011513893
Location:	INTRON

Gene Symbol:	PROM1
Accession:	NM_001145849
Location:	INTRON

Gene Symbol:	PROM1
Accession:	XM_047416376
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:17605048	PMID:19718270	PMID:24154662	PMID:25474345	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001993253	CLINVAR
dbSNP (RS)	rs1730695660	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	PROM1	CLINVAR
OMIM	604365	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: rs1730695660 - Homo sapiens