RGD:405239478 Rat Genome Database

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Variant: RGD:405239478 -  Homo sapiens

RGD ID: 405239478
ClinVar ID: CV2997008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSL6  JAK2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 5,078,376
GRCh38 9 5,078,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322194.2:c.2063A>G
NM_001322195.2:c.2063A>G
NM_001322196.2:c.2063A>G
NM_004972.4:c.2063A>G
More...
02/26/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003718802 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene INSL6 CLINVAR
  JAK2 CLINVAR
OMIM 147796 CLINVAR
  606414 CLINVAR