RGD:150409646 Rat Genome Database

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Variant: RGD:150409646 -  Homo sapiens

RGD ID: 150409646
RS ID: rs28392994
ClinVar ID: CV1175380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 679,915
GRCh38 11 679,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.679915G>A
NC_000011.9:g.679915G>A
NM_021008.3:c.998-99C>T
NM_001293634.1:c.731-99C>T
More... 		07/14/2021 intron variant benign Dyskinesia, seizures, and intellectual developmental disorder; VULTO-VAN SILFHOUT-DE VRIES SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426251
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001367390
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001544191 CLINVAR
  RCV001544192 CLINVAR
dbSNP (RS) rs28392994 CLINVAR
MedGen C4014414 CLINVAR
  C4310683 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR
  615828 CLINVAR
  617171 CLINVAR