RGD:15139579 Rat Genome Database

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Variant: RGD:15139579 -  Homo sapiens

RGD ID: 15139579
RS ID: rs374499572
ClinVar ID: CV695875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCTD17  LOC127896074  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 37,449,257
GRCh38 22 37,053,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282684.1:c.319+9G>C
NM_001282686.2:c.298+9G>C
NM_024681.4:c.298+9G>C
NC_000022.10:g.37449257G>C
More... 		12/31/2019 intron variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCTD17
Accession:XM_011530374
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_005261744
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_047441494
Location:INTRON

Gene Symbol:KCTD17
Accession:NM_001282686
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_005261743
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_047441491
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_047441493
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_005261742
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_047441492
Location:INTRON

Gene Symbol:KCTD17
Accession:NM_001282684
Location:INTRON

Gene Symbol:KCTD17
Accession:NM_024681
Location:INTRON

Gene Symbol:KCTD17
Accession:NM_001282685
Location:INTRON

Gene Symbol:KCTD17
Accession:XM_047441495
Location:INTRON

Gene Symbol:KCTD17
Accession:XR_937917
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877338 CLINVAR
dbSNP (RS) rs374499572 CLINVAR
MedGen C4225341 CLINVAR
NCBI Gene KCTD17 CLINVAR
OMIM 616386 CLINVAR
  616398 CLINVAR