RGD:26899235 Rat Genome Database

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Variant: RGD:26899235 -  Homo sapiens

RGD ID: 26899235
RS ID: rs1861628072
ClinVar ID: CV851225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SET  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 131,456,092
GRCh38 9 128,693,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001248001.2:c.630+5G>C
NM_001248000.2:c.636+5G>C
NM_003011.4:c.663+5G>C
NM_001122821.2:c.702+5G>C
More... 		09/02/2021 intron variant pathogenic|uncertain significance INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58; Mental retardation, autosomal dominant 58; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SET
Accession:NM_001122821
Location:INTRON

Gene Symbol:SET
Accession:NM_003011
Location:INTRON

Gene Symbol:SET
Accession:NM_001248000
Location:INTRON

Gene Symbol:SET
Accession:NM_001248001
Location:INTRON

Gene Symbol:SET
Accession:NM_001374326
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001067044 CLINVAR
  RCV002252311 CLINVAR
dbSNP (RS) rs1861628072 CLINVAR
MedGen C3661900 CLINVAR
  C4748195 CLINVAR
NCBI Gene SET CLINVAR
OMIM 600960 CLINVAR
  618106 CLINVAR