RGD:8648794 Rat Genome Database

Send us a Message



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

Variant: RGD:8648794 -  Homo sapiens

RGD ID: 8648794
RS ID: rs199475749
ClinVar ID: CV108955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NLRP4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 56,373,143
GRCh38 19 55,861,777
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.55861777T>C
NC_000019.9:g.56373143T>C
NM_134444.4:c.2019-215T>C
NG_052802.1:g.30200T>C
More...
intron|intron variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:NLRP4
Accession:NM_134444
Location:INTRON

Gene Symbol:NLRP4
Accession:XM_017026345
Location:INTRON

Gene Symbol:NLRP4
Accession:XM_017026344
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000089480 CLINVAR
dbSNP (RS) rs199475749 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NLRP4 CLINVAR
OMIM 609645 CLINVAR