RGD:13521914 Rat Genome Database

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Variant: RGD:13521914 -  Homo sapiens

RGD ID: 13521914
RS ID: rs184441390
ClinVar ID: CV490266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 51,824,833
GRCh38 6 51,960,035
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.5752-9G>A
NM_170724.3:c.5752-9G>A
NG_008753.1:g.132591G>A
NC_000006.12:g.51960035C>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AR polycystic kidney disease; none provided; 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:XM_011514690
Location:5UTRS;INTRON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_047418895
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010947
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_170724
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514685
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514691
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_138694
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514680
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010948
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514686
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514687
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000591074 CLINVAR
  RCV001089421 CLINVAR
dbSNP (RS) rs184441390 CLINVAR
MedGen C0085548 CLINVAR
  C3661900 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR