RGD:405219393 Rat Genome Database

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Variant: RGD:405219393 -  Homo sapiens

RGD ID: 405219393
ClinVar ID: CV3045808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC126861109  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 674,750
GRCh38 11 674,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021008.4:c.1289C>G
NM_001367390.1:c.563C>G
NG_034156.2:g.37334C>G
NG_085608.1:g.934G>C
More...
05/22/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003733036 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
  LOC126861109 CLINVAR
OMIM 602635 CLINVAR