RGD:11651425 Rat Genome Database

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Variant: RGD:11651425 -  Homo sapiens

RGD ID: 11651425
RS ID: rs886061626
ClinVar ID: CV308219
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 51,952,370
GRCh38 6 52,087,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008753.1:g.5054G>A
NC_000006.12:g.52087572C>T
NC_000006.11:g.51952370C>T
NM_138694.4:c.-223G>A
More... 		06/14/2016 5 prime utr variant uncertain significance childhood 1-9 / 100 000 AR polycystic kidney disease; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; 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:NM_170724
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514686
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010947
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514687
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514685
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:NM_138694
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_047418895
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:5UTRS;INTRON

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

Gene Symbol:PKHD1
Accession:XM_011514690
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514680
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514691
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010948
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299088 CLINVAR
dbSNP (RS) rs886061626 CLINVAR
MedGen C0085548 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR