RGD:11654330 Rat Genome Database

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Variant: RGD:11654330 -  Homo sapiens

RGD ID: 11654330
RS ID: rs886050129
ClinVar ID: CV319414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 33,640,073
GRCh38 13 33,065,936
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.54503T>C
NC_000013.11:g.33065936T>C
NC_000013.10:g.33640073T>C
NM_004795.4:c.*1750T>C
More... 		06/14/2016 3 prime utr variant uncertain significance childhood
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KL
Accession:NM_004795
Location:3UTRS;EXON

Gene Symbol:KL
Accession:XM_006719895
Location:3UTRS;EXON

Gene Symbol:KL
Accession:XM_047430776
Location:INTRON

Gene Symbol:KL
Accession:XM_047430775
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316804 CLINVAR
dbSNP (RS) rs886050129 CLINVAR
MedGen C4693864 CLINVAR
NCBI Gene KL CLINVAR
OMIM 604824 CLINVAR
  617994 CLINVAR