RGD:34888504 Rat Genome Database

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Variant: RGD:34888504 -  Homo sapiens

RGD ID: 34888504
RS ID: rs1860668138
ClinVar ID: CV904175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 687,910
GRCh38 11 687,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034156.2:g.24174G>T
NC_000011.10:g.687910C>A
NC_000011.9:g.687910C>A
NM_021008.3:c.664+1G>T
More... 		06/02/2020 splice donor variant pathogenic VULTO-VAN SILFHOUT-DE VRIES SYNDROME
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:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
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:30923367  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001171483 CLINVAR
dbSNP (RS) rs1860668138 CLINVAR
MedGen C4014414 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR
  615828 CLINVAR
OMIM Allele 602635.0012 CLINVAR