RGD:11602996 Rat Genome Database

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Variant: RGD:11602996 -  Homo sapiens

RGD ID: 11602996
RS ID: rs760544024
ClinVar ID: CV309672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 128,032,430
GRCh38 7 128,392,376
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.22607C>T
NC_000007.14:g.128392376G>A
NC_000007.13:g.128032430G>A
NM_000883.4:c.*631C>T
More...
06/14/2016 3 prime utr variant uncertain significance Amaurosis congenita of Leber, type 11; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IMPDH1
Accession:NM_183243
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001102605
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001142576
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_000883
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001142575
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001142574
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001142573
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:NM_001304521
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_024446757
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_024446756
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_024446755
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_024446758
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_047420334
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_047420333
Location:3UTRS;EXON

Gene Symbol:IMPDH1
Accession:XM_017012173
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295925 CLINVAR
  RCV000387904 CLINVAR
dbSNP (RS) rs760544024 CLINVAR
MedGen C0035334 CLINVAR
  C1840284 CLINVAR
NCBI Gene IMPDH1 CLINVAR
OMIM 146690 CLINVAR
  268000 CLINVAR
  613837 CLINVAR
SNOMED CT 28835009 CLINVAR