RGD:11617108 Rat Genome Database

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Variant: RGD:11617108 -  Homo sapiens

RGD ID: 11617108
RS ID: rs751822472
ClinVar ID: CV324834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 10,527,862
GRCh38 11 10,506,315
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.60639A>G
NC_000011.10:g.10506315A>G
NC_000011.9:g.10527862A>G
NM_001172431.2:c.*431A>G
More...
01/12/2018 3 prime utr variant uncertain significance all ages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMPD3
Accession:NM_001172431
Location:3UTRS;EXON

Gene Symbol:AMPD3
Accession:NM_000480
Location:3UTRS;EXON

Gene Symbol:AMPD3
Accession:NM_001025389
Location:3UTRS;EXON

Gene Symbol:AMPD3
Accession:NM_001025390
Location:3UTRS;EXON

Gene Symbol:AMPD3
Accession:NM_001172430
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301068 CLINVAR
dbSNP (RS) rs751822472 CLINVAR
MedGen C2752073 CLINVAR
NCBI Gene AMPD3 CLINVAR
OMIM 102772 CLINVAR
  612874 CLINVAR