RGD:11641861 Rat Genome Database

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Variant: RGD:11641861 -  Homo sapiens

RGD ID: 11641861
RS ID: rs148875137
ClinVar ID: CV273847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 128,034,653
GRCh38 7 128,394,599
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009194.1:g.20384C>T
NC_000007.14:g.128394599G>A
NC_000007.13:g.128034653G>A
NP_000874.2:p.Ser517=
More...
06/02/2023 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IMPDH1
Accession:NM_183243
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001102605
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142576
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_000883
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142575
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142574
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142573
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001304521
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_017012173
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446757
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446756
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446755
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446758
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_047420334
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_047420333
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000361859 CLINVAR
  RCV003298346 CLINVAR
dbSNP (RS) rs148875137 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene IMPDH1 CLINVAR
OMIM 146690 CLINVAR