RGD:152066720 Rat Genome Database

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Variant: RGD:152066720 -  Homo sapiens

RGD ID: 152066720
RS ID: rs373778878
ClinVar ID: CV1620232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 688,324
GRCh38 11 688,324
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.-210+7C>T
NM_001293634.1:c.517+7C>T
NM_021008.4:c.517+7C>T
NG_034156.2:g.23760C>T
More... 		11/18/2021 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:XM_047426251
Location:5UTRS;INTRON

Gene Symbol:DEAF1
Accession:NM_001367390
Location:5UTRS;INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:5UTRS;INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:XR_007062436
Location:INTRON;NON-CODING

Gene Symbol:DEAF1
Accession:XR_007062437
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002209445 CLINVAR
  RCV003911281 CLINVAR
dbSNP (RS) rs373778878 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR