RGD:405008919 Rat Genome Database

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Variant: RGD:405008919 -  Homo sapiens

RGD ID: 405008919
ClinVar ID: CV3052685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 128,786,284
GRCh38 11 128,916,389
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000890.5:c.938-20T>C
NM_001354169.2:c.938-20T>C
LRG_333:g.29972T>C
NG_023406.2:g.29972T>C
More... 		09/27/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_001354169
Location:INTRON

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:INTRON

Gene Symbol:KCNJ5
Accession:NM_000890
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003648852 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR
SNOMED CT 9651007 CLINVAR