RGD:40888454 Rat Genome Database

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Variant: RGD:40888454 -  Homo sapiens

RGD ID: 40888454
RS ID: rs914740277
ClinVar ID: CV971401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SETD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 47,103,836
GRCh38 3 47,062,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014159.7:c.6110C>T
LRG_775:g.106632C>T
NG_032091.1:g.106632C>T
NC_000003.12:g.47062346G>A
More... 		02/06/2020 missense variant uncertain significance Seizures
Disease Annotations     Click to see Annotation Detail View
epilepsy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SETD2
Accession:NM_001349370
Location:INTRON

Gene Symbol:SETD2
Accession:XM_024453488
Location:INTRON

Gene Symbol:SETD2
Accession:NM_014159
Location:INTRON

Gene Symbol:SETD2
Accession:XM_024453487
Location:INTRON

Gene Symbol:SETD2
Accession:XM_047448045
Location:INTRON

Gene Symbol:SETD2
Accession:XM_024453489
Location:INTRON

Gene Symbol:SETD2
Accession:NR_146158
Location:INTRON;NON-CODING

Gene Symbol:SETD2
Accession:XR_007095670
Location:INTRON;NON-CODING

Gene Symbol:SETD2
Accession:XR_002959514
Location:INTRON;NON-CODING

Gene Symbol:SETD2
Accession:XR_007095672
Location:INTRON;NON-CODING

Gene Symbol:SETD2
Accession:XR_007095673
Location:INTRON;NON-CODING

Gene Symbol:SETD2
Accession:XR_007095671
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001263417 CLINVAR
dbSNP (RS) rs914740277 CLINVAR
MedGen C0036572 CLINVAR
NCBI Gene SETD2 CLINVAR
OMIM 612778 CLINVAR