RGD:405201133 Rat Genome Database

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Variant: RGD:405201133 -  Homo sapiens

RGD ID: 405201133
ClinVar ID: CV2873435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 678,729
GRCh38 11 678,729
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.1220C>A
NM_001367390.1:c.494C>A
NM_001293634.1:c.953C>A
NG_034156.2:g.33355C>A
More...
06/18/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003551397 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR