RGD:150478766 Rat Genome Database

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Variant: RGD:150478766 -  Homo sapiens

RGD ID: 150478766
RS ID: rs74859180
ClinVar ID: CV1240556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 115,219,729
GRCh38 1 114,677,108
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.1376+243C>T
NM_000036.3:c.1388+243C>T
NG_008012.1:g.23448C>T
NC_000001.11:g.114677108G>A
More... 		06/18/2021 intron variant benign none provided

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

Gene Symbol:AMPD1
Accession:NM_001172626
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001652431 CLINVAR
dbSNP (RS) rs74859180 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR