RGD:26886137 Rat Genome Database

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Variant: RGD:26886137 -  Homo sapiens

RGD ID: 26886137
RS ID: rs757298720
ClinVar ID: CV850975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPG2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 100,995,504
GRCh38 3 101,276,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016247.4:c.583+4T>C
NG_028284.1:g.48916T>C
NC_000003.12:g.101276660A>G
NC_000003.11:g.100995504A>G
More...
11/20/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IMPG2
Accession:NM_016247
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001054593 CLINVAR
dbSNP (RS) rs757298720 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IMPG2 CLINVAR
OMIM 607056 CLINVAR