RGD:15172415 Rat Genome Database

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Variant: RGD:15172415 -  Homo sapiens

RGD ID: 15172415
RS ID: rs190658613
ClinVar ID: CV778680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 36,784,246
GRCh38 20 38,155,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198951.3:c.433+3G>A
NC_000020.11:g.38155844C>T
NC_000020.10:g.36784246C>T
NM_004613.3:c.433+3G>A
More...
12/04/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TGM2
Accession:NM_198951
Location:INTRON

Gene Symbol:TGM2
Accession:NM_001323318
Location:INTRON

Gene Symbol:TGM2
Accession:XM_011529028
Location:INTRON

Gene Symbol:TGM2
Accession:NM_004613
Location:INTRON

Gene Symbol:TGM2
Accession:NM_001323317
Location:INTRON

Gene Symbol:TGM2
Accession:XM_047440443
Location:INTRON

Gene Symbol:TGM2
Accession:NM_001323316
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000950021 CLINVAR
dbSNP (RS) rs190658613 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TGM2 CLINVAR
OMIM 190196 CLINVAR