RGD:151891701 Rat Genome Database

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Variant: RGD:151891701 -  Homo sapiens

RGD ID: 151891701
RS ID: rs750114853
ClinVar ID: CV1394469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 115,222,328
GRCh38 1 114,679,707
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.757A>C
NM_000036.3:c.769A>C
NG_008012.1:g.20849A>C
NC_000001.11:g.114679707T>G
More... 		09/10/2021 missense variant uncertain significance 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_001172626
Location:EXON

Gene Symbol:AMPD1
Accession:NM_000036
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002039209 CLINVAR
dbSNP (RS) rs750114853 CLINVAR
MedGen C3714933 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR
  615511 CLINVAR
SNOMED CT 9105005 CLINVAR