RGD:150513847 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150513847 -  Homo sapiens

RGD ID: 150513847
RS ID: rs2842184
ClinVar ID: CV1227930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,904,316
GRCh38 1 43,438,645
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.6338-54A>G
NM_001365999.1:c.6509-54A>G
NG_029091.1:g.53761A>G
NC_000001.11:g.43438645A>G
More...
07/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001638208 CLINVAR
dbSNP (RS) rs2842184 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR