RGD:405132927 Rat Genome Database

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Variant: RGD:405132927 -  Homo sapiens

RGD ID: 405132927
ClinVar ID: CV3115259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKHD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 51,701,186
GRCh38 6 51,836,388
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.8173+16C>T
NM_170724.3:c.8173+16C>T
NG_008753.1:g.256238C>T
NC_000006.12:g.51836388G>A
More... 		02/01/2024 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 Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003816104 CLINVAR
  RCV003966684 CLINVAR
MedGen C0085548 CLINVAR
NCBI Gene PKHD1 CLINVAR
OMIM 263200 CLINVAR
  606702 CLINVAR
SNOMED CT 28770003 CLINVAR