RGD:28898966 Rat Genome Database

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Variant: RGD:28898966 -  Homo sapiens

RGD ID: 28898966
RS ID: rs202231572
ClinVar ID: CV868596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 10,516,441
GRCh38 11 10,494,894
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172431.2:c.658-5C>T
NM_001025390.2:c.1156-5C>T
NM_000480.3:c.1162-5C>T
NM_001025389.1:c.1135-5C>T
More... 		01/13/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMPD3
Accession:NM_001025390
Location:INTRON

Gene Symbol:AMPD3
Accession:NM_001025389
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 Information

Database Acc Id Source(s)
ClinVar RCV001103192 CLINVAR
dbSNP (RS) rs202231572 CLINVAR
MedGen C2752073 CLINVAR
NCBI Gene AMPD3 CLINVAR
OMIM 102772 CLINVAR
  612874 CLINVAR