RGD:126739321 Rat Genome Database

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Variant: RGD:126739321 -  Homo sapiens

RGD ID: 126739321
ClinVar ID: CV1019381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,886,976
GRCh38 1 43,421,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365999.1:c.1626+2T>C
NM_015284.4:c.1626+2T>C
NG_029091.1:g.36421T>C
NC_000001.11:g.43421305T>C
More... 		01/24/2018 splice donor variant pathogenic DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Variant Samples