RGD:597727281 Rat Genome Database

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Variant: RGD:597727281 -  Homo sapiens

RGD ID: 597727281
ClinVar ID: CV3597252
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMPD3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 68,405,387
GRCh38 16 68,371,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_018667.4:c.698C>G
NC_000016.10:g.68371484G>C
NC_000016.9:g.68405387G>C
NM_018667.3:c.698C>G
More... 		10/08/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004862664 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SMPD3 CLINVAR
OMIM 605777 CLINVAR