RGD:11599696 Rat Genome Database

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Variant: RGD:11599696 -  Homo sapiens

RGD ID: 11599696
RS ID: rs369778695
ClinVar ID: CV312209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 10,517,114
GRCh38 11 10,495,567
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.49891C>T
NC_000011.10:g.10495567C>T
NC_000011.9:g.10517114C>T
NM_000480.3:c.1294-3C>T
More... 		10/28/2019 intron variant likely benign|uncertain significance all ages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMPD3
Accession:NM_001025389
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001025390
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_000480
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001172431
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001172430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000267617 CLINVAR
  RCV003950014 CLINVAR
dbSNP (RS) rs369778695 CLINVAR
MedGen C2752073 CLINVAR
NCBI Gene AMPD3 CLINVAR
OMIM 102772 CLINVAR
  612874 CLINVAR