RGD:15180128 Rat Genome Database

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Variant: RGD:15180128 -  Homo sapiens

RGD ID: 15180128
RS ID: rs72624948
ClinVar ID: CV777580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPDH1  LOC127457594  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 128,045,814
GRCh38 7 128,405,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304521.2:c.147-2006G>C
NM_183243.3:c.245+7G>C
NM_001142576.2:c.255-2006G>C
NM_001102605.2:c.323+7G>C
More... 		08/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IMPDH1
Accession:NM_001142576
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_000883
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_047420333
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_017012173
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446757
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142573
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142574
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142575
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_047420334
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001304521
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446758
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446755
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_183243
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446756
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001102605
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000951676 CLINVAR
dbSNP (RS) rs72624948 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IMPDH1 CLINVAR
OMIM 146690 CLINVAR