RGD:42724109 Rat Genome Database

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Variant: RGD:42724109 -  Homo sapiens

RGD ID: 42724109
RS ID: rs553377243
ClinVar ID: CV984883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKD1  PKD1-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,141,914
GRCh38 16 2,091,913
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008617.1:g.51308C>G
NC_000016.10:g.2091913G>C
NC_000016.9:g.2141914G>C
NM_001009944.3:c.11412-7C>G
More... 		intron variant uncertain significance Kidney, Polycystic; Polycystic kidney dysplasia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PKD1
Accession:NM_001009944
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522528
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522529
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522537
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434209
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434212
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434210
Location:INTRON

Gene Symbol:PKD1
Accession:NM_000296
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434208
Location:INTRON

Gene Symbol:PKD1
Accession:XM_005255370
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434211
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434213
Location:INTRON

Gene Symbol:PKD1-AS1
Accession:NR_135175
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001291999 CLINVAR
dbSNP (RS) rs553377243 CLINVAR
MedGen C0022680 CLINVAR
NCBI Gene AC009065.2 CLINVAR
  PKD1 CLINVAR
OMIM 601313 CLINVAR