RGD:401943322 Rat Genome Database

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Variant: RGD:401943322 -  Homo sapiens

RGD ID: 401943322
ClinVar ID: CV2835005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 51,944,807
GRCh38 6 52,080,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138694.4:c.282-1G>T
NM_170724.3:c.282-1G>T
NG_008753.1:g.12617G>T
NC_000006.12:g.52080009C>A
More... 		10/10/2022 splice acceptor variant likely pathogenic PKD3; POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKHD1
Accession:XM_047418895
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_138694
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514686
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514685
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514690
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514687
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_170724
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514680
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514691
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010947
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010948
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 RCV003463286 CLINVAR
MedGen C4540575 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR