RGD:9586804 Rat Genome Database

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Variant: RGD:9586804 -  Homo sapiens

RGD ID: 9586804
RS ID: rs587779375
ClinVar ID: CV97352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 115,238,161
GRCh38 1 114,695,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008012.1:g.5016C>G
NC_000001.11:g.114695540G>C
NC_000001.10:g.115238161G>C
NP_000027.2:p.Gln11Glu
More... 		5 prime utr variant|missense variant uncertain significance Autistic disorder; Autistic disorder of childhood onset
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:AMPD1
Accession:NM_000036
Location:5UTRS;EXON

Gene Symbol:AMPD1
Accession:NM_001172626
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25155876  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000143850 CLINVAR
dbSNP (RS) rs587779375 CLINVAR
MedGen C0004352 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR
  209850 CLINVAR
SNOMED CT 408856003 CLINVAR