RGD:8639807 Rat Genome Database

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Variant: RGD:8639807 -  Homo sapiens

RGD ID: 8639807
RS ID: rs6414612
ClinVar ID: CV98790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A20  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 48,897,078
GRCh38 3 48,859,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008171.1:g.44252T>C
NC_000003.12:g.48859645A>G
NC_000003.11:g.48897078A>G
NM_000387.6:c.536-18T>C
More... 		01/05/2018 intron|intron variant benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A20
Accession:NM_000387
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000078685 CLINVAR
  RCV001520457 CLINVAR
dbSNP (RS) rs6414612 CLINVAR
MedGen C0342791 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC25A20 CLINVAR
OMIM 212138 CLINVAR
  613698 CLINVAR
SNOMED CT 238003000 CLINVAR