RGD:152136844 Rat Genome Database

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Variant: RGD:152136844 -  Homo sapiens

RGD ID: 152136844
RS ID: rs532506042
ClinVar ID: CV1587973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 115,220,942
GRCh38 1 114,678,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172626.2:c.1080+12C>T
NM_000036.3:c.1092+12C>T
NG_008012.1:g.22235C>T
NC_000001.11:g.114678321G>A
More... 		06/04/2021 intron variant likely benign Adenosine Monophosphate Deaminase 1; Adenosine monophosphate deaminase 1 deficiency; ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO; AMP deaminase 1 deficiency; AMPD1 DEFICIENCY; Myoadenylate deaminase deficiency, myopathy due to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMPD1
Accession:NM_000036
Location:INTRON

Gene Symbol:AMPD1
Accession:NM_001172626
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002083622 CLINVAR
dbSNP (RS) rs532506042 CLINVAR
MedGen C3714933 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR
  615511 CLINVAR
SNOMED CT 9105005 CLINVAR