RGD:150331482 Rat Genome Database

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Variant: RGD:150331482 -  Homo sapiens

RGD ID: 150331482
RS ID: rs143712146
ClinVar ID: CV1163375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 115,223,314
GRCh38 1 114,680,693
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.114680693G>A
NC_000001.10:g.115223314G>A
NM_000036.3:c.548-215C>T
NG_008012.1:g.19863C>T
More... 		06/18/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AMPD1
Accession:NM_001172626
Location:INTRON

Gene Symbol:AMPD1
Accession:NM_000036
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001527820 CLINVAR
dbSNP (RS) rs143712146 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR