RGD:14725596 Rat Genome Database

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Variant: RGD:14725596 -  Homo sapiens

RGD ID: 14725596
RS ID: rs1576304776
ClinVar ID: CV651146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPOX  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 98,309,854
GRCh38 3 98,591,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1077t1:c.700+2T>G
NM_000097.7:c.700+2T>G
LRG_1077:g.7602T>G
NG_015994.2:g.7602T>G
More... 		10/29/2018 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CPOX
Accession:NM_000097
Location:INTRON

Gene Symbol:CPOX
Accession:XM_047447475
Location:INTRON

Gene Symbol:CPOX
Accession:XM_005247125
Location:INTRON

Gene Symbol:CPOX
Accession:XM_047447474
Location:INTRON

Gene Symbol:CPOX
Accession:XM_047447473
Location:INTRON

Gene Symbol:CPOX
Accession:XR_001740025
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9888388   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815282 CLINVAR
dbSNP (RS) rs1576304776 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CPOX CLINVAR
OMIM 612732 CLINVAR