RGD:11622173 Rat Genome Database

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Variant: RGD:11622173 -  Homo sapiens

RGD ID: 11622173
RS ID: rs776705661
ClinVar ID: CV324915
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,018,461
GRCh38 11 108,147,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000011.10:g.108147734T>C
NG_009888.2:g.36030T>C
NC_000011.9:g.108018461T>C
NM_000019.3:c.*344T>C
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-methylacetoaceticaciduria; Beta ketothiolase deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357042 CLINVAR
dbSNP (RS) rs776705661 CLINVAR
MedGen C1536500 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR