RGD:152147267 Rat Genome Database

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Variant: RGD:152147267 -  Homo sapiens

RGD ID: 152147267
RS ID: rs779638989
ClinVar ID: CV1609828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 12,991,600
GRCh38 19 12,880,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375.3:c.346+16G>A
NC_000019.10:g.12880786C>T
NC_000019.9:g.12991600C>T
10/15/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002157624 CLINVAR
dbSNP (RS) rs779638989 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNASE2 CLINVAR
OMIM 126350 CLINVAR