RGD:12839193 Rat Genome Database

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Variant: RGD:12839193 -  Homo sapiens

RGD ID: 12839193
RS ID: rs372844012
ClinVar ID: CV376546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 65,369,137
GRCh38 15 65,076,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_682t1:c.-17C>T
LRG_682:g.4984C>T
NG_021411.1:g.4984C>T
NC_000015.10:g.65076799C>T
More... 		07/28/2017 5 prime utr variant|upstream transcript variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KBTBD13
Accession:NM_001101362
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000428363 CLINVAR
dbSNP (RS) rs372844012 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 613727 CLINVAR