RGD:15134124 Rat Genome Database

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Variant: RGD:15134124 -  Homo sapiens

RGD ID: 15134124
RS ID: rs200730851
ClinVar ID: CV683812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 51,799,119
GRCh38 6 51,934,321
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.5910G>A
NM_138694.4:c.5910G>A
NC_000006.11:g.51799119C>T
NM_170724.3:c.5910G>A
More... 		12/31/2019 synonymous variant benign|conflicting interpretations of pathogenicity 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:XM_011514691
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_011514690
Location:5UTRS;EXON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010948
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514680
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514686
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010947
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514687
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:EXON

Gene Symbol:PKHD1
Accession:NM_138694
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514685
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:EXON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:EXON

Gene Symbol:PKHD1
Accession:NM_170724
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:EXON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:EXON

Gene Symbol:PKHD1
Accession:XM_047418895
Location:EXON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000864081 CLINVAR
dbSNP (RS) rs200730851 CLINVAR
MedGen C0085548 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR