RGD:14697881 Rat Genome Database

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Variant: RGD:14697881 -  Homo sapiens

RGD ID: 14697881
RS ID: rs1596485727
ClinVar ID: CV623326
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKD1  PKD1-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,142,954
GRCh38 16 2,092,953
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.11156+1G>C
NG_008617.1:g.50268G>C
NC_000016.10:g.2092953C>G
NC_000016.9:g.2142954C>G
More... 		10/31/2018 non-coding transcript variant pathogenic 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-AS1
Accession:NR_135175
Location:EXON;NON-CODING

Gene Symbol:PKD1
Accession:XM_047434213
Location:INTRON

Gene Symbol:PKD1
Accession:NM_000296
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434208
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522528
Location:INTRON

Gene Symbol:PKD1
Accession:NM_001009944
Location:INTRON

Gene Symbol:PKD1
Accession:XM_005255370
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522537
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434212
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522529
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434209
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434211
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434210
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000786889 CLINVAR
dbSNP (RS) rs1596485727 CLINVAR
MedGen C3149841 CLINVAR
NCBI Gene 105371049 CLINVAR
  PKD1 CLINVAR
OMIM 173900 CLINVAR
  601313 CLINVAR
SNOMED CT 28728008 CLINVAR