RGD:405214920 Rat Genome Database

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Variant: RGD:405214920 -  Homo sapiens

RGD ID: 405214920
ClinVar ID: CV3143188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,897,210
GRCh38 1 43,431,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015284.4:c.4917+16C>G
NM_001365999.1:c.5088+16C>G
NG_029091.1:g.46655C>G
NC_000001.11:g.43431539C>G
More... 		11/10/2022 intron variant likely benign none provided

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

Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003846351 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR