RGD:38459409 Rat Genome Database

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Variant: RGD:38459409 -  Homo sapiens

RGD ID: 38459409
RS ID: rs778212840
ClinVar ID: CV920357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKD1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 2,156,029
GRCh38 16 2,106,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001009944.3:c.7704-4G>T
NG_008617.1:g.34871G>T
NC_000016.10:g.2106028C>A
NC_000016.9:g.2156029C>A
More... 		03/24/2019 intron variant uncertain significance Polycystic kidney disease 1; POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; Polycystic kidney disease 1, severe; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic Kidney, Autosomal Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKD1
Accession:XM_047434209
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434211
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434212
Location:INTRON

Gene Symbol:PKD1
Accession:XM_005255370
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522529
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522528
Location:INTRON

Gene Symbol:PKD1
Accession:NM_000296
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434210
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434213
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522537
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434208
Location:INTRON

Gene Symbol:PKD1
Accession:NM_001009944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001195820 CLINVAR
dbSNP (RS) rs778212840 CLINVAR
MedGen C3149841 CLINVAR
NCBI Gene PKD1 CLINVAR
OMIM 173900 CLINVAR
  601313 CLINVAR
SNOMED CT 28728008 CLINVAR