RGD:405069968 Rat Genome Database

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Variant: RGD:405069968 -  Homo sapiens

RGD ID: 405069968
ClinVar ID: CV3064352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 51,941,147
GRCh38 6 52,076,349
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.391-16A>G
NM_170724.3:c.391-16A>G
NG_008753.1:g.16277A>G
NC_000006.12:g.52076349T>C
More... 		10/03/2023 intron variant likely benign 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_138694
Location:INTRON

Gene Symbol:PKHD1
Accession:NM_170724
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514683
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514682
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514680
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514684
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514690
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:XM_011514685
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_011514688
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010944
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010945
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010947
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010946
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010948
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010949
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010950
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010951
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_017010952
Location:INTRON

Gene Symbol:PKHD1
Accession:XM_047418895
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 RCV003612111 CLINVAR
MedGen C0085548 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR