RGD:11588605 Rat Genome Database

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Variant: RGD:11588605 -  Homo sapiens

RGD ID: 11588605
RS ID: rs566770224
ClinVar ID: CV295349
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 48,936,343
GRCh38 3 48,898,910
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
NG_008171.1:g.4987C>A
NC_000003.12:g.48898910G>T
NC_000003.11:g.48936343G>T
NM_000387.5:c.-116C>A
 06/14/2016 5 prime utr variant uncertain significance infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304130 CLINVAR
dbSNP (RS) rs566770224 CLINVAR
MedGen C0342791 CLINVAR
NCBI Gene SLC25A20 CLINVAR
OMIM 212138 CLINVAR
  613698 CLINVAR
SNOMED CT 238003000 CLINVAR