rs199476250 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: rs199476250 -  Homo sapiens

RGD ID: 8648892
RS ID: rs199476250
ClinVar ID: CV109053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NLRP13  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 56,435,813
GRCh38 19 55,924,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_176810.2:c.457+143T>G
NC_000019.10:g.55924447A>C
NC_000019.9:g.56435813A>C
NM_001321057.1:c.457+143T>G
More...
intron|intron variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:NLRP13
Accession:NM_001321057
Location:INTRON

Gene Symbol:NLRP13
Accession:NM_176810
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000089578 CLINVAR
dbSNP (RS) rs199476250 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NLRP13 CLINVAR
OMIM 609660 CLINVAR