RGD:14730641 Rat Genome Database

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Variant: RGD:14730641 -  Homo sapiens

RGD ID: 14730641
RS ID: rs949464841
ClinVar ID: CV653791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSD17B10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 53,458,933
GRCh38 X 53,431,985
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004493.3:c.486+3G>A
LRG_450t1:c.486+3G>A
LRG_450t2:c.486+3G>A
NM_001037811.2:c.486+3G>A
More... 		01/06/2019 intron variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:HSD17B10
Accession:NM_001037811
Location:INTRON

Gene Symbol:HSD17B10
Accession:NM_004493
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000801040 CLINVAR
  RCV003489886 CLINVAR
dbSNP (RS) rs949464841 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene HSD17B10 CLINVAR
OMIM 300256 CLINVAR