RGD:597727290 Rat Genome Database

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Variant: RGD:597727290 -  Homo sapiens

RGD ID: 597727290
ClinVar ID: CV3597253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMPD3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,395,146
GRCh38 16 68,361,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_018667.4:c.1931T>C
NG_054896.2:g.55226A>G
NC_000016.10:g.68361243A>G
NC_000016.9:g.68395146A>G
More... 		11/15/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004862665 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SMPD3 CLINVAR
OMIM 605777 CLINVAR