RGD:405180859 Rat Genome Database

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Variant: RGD:405180859 -  Homo sapiens

RGD ID: 405180859
ClinVar ID: CV3060554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC126861109  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 674,531
GRCh38 11 674,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001293634.1:c.1236+5C>T
NM_021008.4:c.1503+5C>T
NM_001367390.1:c.777+5C>T
NG_034156.2:g.37553C>T
More...
01/29/2024 intron variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003728707 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
  LOC126861109 CLINVAR
OMIM 602635 CLINVAR