RGD:11609243 Rat Genome Database

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Variant: RGD:11609243 -  Homo sapiens

RGD ID: 11609243
RS ID: rs28403593
ClinVar ID: CV323998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 10,476,913
GRCh38 11 10,455,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012041.1:g.9690G>T
NC_000011.10:g.10455366G>T
NC_000011.9:g.10476913G>T
NM_001025389.1:c.-88G>T
More... 		01/13/2018 2kb upstream variant|5 prime utr variant benign|likely benign all ages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMPD3
Accession:NM_001025389
Location:5UTRS;EXON

Gene Symbol:AMPD3
Accession:NM_001172431
Location:5UTRS;INTRON

Gene Symbol:AMPD3
Accession:NM_000480
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001025390
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001172430
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000365650 CLINVAR
dbSNP (RS) rs28403593 CLINVAR
MedGen C2752073 CLINVAR
NCBI Gene AMPD3 CLINVAR
OMIM 102772 CLINVAR
  612874 CLINVAR