RGD:11545410 Rat Genome Database

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Variant: RGD:11545410 -  Homo sapiens

RGD ID: 11545410
RS ID: rs9395699
ClinVar ID: CV252399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 51,484,348
GRCh38 6 51,619,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138694.3:c.11786-30C>T
NG_008753.1:g.473076C>T
NC_000006.12:g.51619550G>A
NC_000006.11:g.51484348G>A
More... 		06/19/2021 intron variant benign AllHighlyPenetrant; AR polycystic kidney disease; none provided; 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


Variant Details
Variant Transcripts
Gene Symbol:PKHD1
Accession:XM_017010947
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_138694
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010948
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514685
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_047418895
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514690
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514680
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:NM_170724
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245097 CLINVAR
  RCV001530467 CLINVAR
  RCV001675762 CLINVAR
  RCV001833283 CLINVAR
dbSNP (RS) rs9395699 CLINVAR
MedGen C0085548 CLINVAR
  C3661900 CLINVAR
  C4540575 CLINVAR
  CN169374 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR