RGD:405193756 Rat Genome Database

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Variant: RGD:405193756 -  Homo sapiens

RGD ID: 405193756
ClinVar ID: CV2975132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC127820019  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 686,925
GRCh38 11 686,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367390.1:c.11G>A
NM_001293634.1:c.664+986G>A
NM_021008.4:c.737G>A
NG_034156.2:g.25159G>A
More...
06/11/2023 intron variant likely pathogenic none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:27441994   PMID:28492532   PMID:28940898  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003677447 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR