RGD:11623232 Rat Genome Database

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Variant: RGD:11623232 -  Homo sapiens

RGD ID: 11623232
RS ID: rs116627995
ClinVar ID: CV336010
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 33,639,987
GRCh38 13 33,065,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011485.1:g.54417T>C
NC_000013.11:g.33065850T>C
NC_000013.10:g.33639987T>C
NM_004795.4:c.*1664T>C
More... 		06/14/2016 3 prime utr variant likely benign childhood
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KL
Accession:XM_006719895
Location:3UTRS;EXON

Gene Symbol:KL
Accession:NM_004795
Location:3UTRS;EXON

Gene Symbol:KL
Accession:XM_047430775
Location:INTRON

Gene Symbol:KL
Accession:XM_047430776
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000370436 CLINVAR
dbSNP (RS) rs116627995 CLINVAR
MedGen C4693864 CLINVAR
NCBI Gene KL CLINVAR
OMIM 604824 CLINVAR
  617994 CLINVAR