RGD:150491149 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150491149 -  Homo sapiens

RGD ID: 150491149
RS ID: rs6679869
ClinVar ID: CV1222710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPD1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 115,217,727
GRCh38 1 114,675,106
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.1668-234C>G
NM_000036.3:c.1680-234C>G
NG_008012.1:g.25450C>G
NC_000001.11:g.114675106G>C
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 RCV001618770 CLINVAR
dbSNP (RS) rs6679869 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AMPD1 CLINVAR
OMIM 102770 CLINVAR