RGD:152056333 Rat Genome Database

Variant: RGD:152056333 - Homo sapiens

RGD ID:

152056333

RS ID:

rs181140024

ClinVar ID:

CV1636802

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PKHD1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	51,512,935
GRCh38	6	51,648,137

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_138694.4:c.11311-19C>G NG_008753.1:g.444489C>G NC_000006.12:g.51648137G>C NC_000006.11:g.51512935G>C	10/22/2021	intron variant	likely benign	AR polycystic kidney disease; PKD3; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; Polycystic kidney disease, infantile type; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I

Disease Annotations Click to see Annotation Detail View

autosomal recessive polycystic kidney disease (IAGP)

polycystic kidney disease 4 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PKHD1
Accession:	NM_138694
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	NM_170724
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514683
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514682
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514680
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514684
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514690
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514691
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514687
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514686
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514685
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_011514688
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010944
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010945
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010947
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010946
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010948
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010949
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010950
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010951
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_017010952
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XM_047418895
Location:	INTRON

Gene Symbol:	PKHD1
Accession:	XR_001743469
Location:	INTRON;NON-CODING

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	RCV002208137	CLINVAR
	RCV002496135	CLINVAR
dbSNP (RS)	rs181140024	CLINVAR
MedGen	C0085548	CLINVAR
	C4540575	CLINVAR
NCBI Gene	PKHD1	CLINVAR
OMIM	263200	CLINVAR
	606702	CLINVAR
SNOMED CT	28770003	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: RGD:152056333 - Homo sapiens

Imported Disease Annotations - ClinVar