RGD:11660097 Rat Genome Database

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Variant: RGD:11660097 -  Homo sapiens

RGD ID: 11660097
RS ID: rs886051344
ClinVar ID: CV339680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 65,371,806
GRCh38 15 65,079,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_682t1:c.*1276G>T
LRG_682:g.7653G>T
NG_021411.1:g.7653G>T
NC_000015.10:g.65079468G>T
More... 		01/13/2018 3 prime utr variant uncertain significance Nemaline myopathy 6, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KBTBD13
Accession:NM_001101362
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363897 CLINVAR
dbSNP (RS) rs886051344 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR