RGD:407489749 Rat Genome Database

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Variant: RGD:407489749 -  Homo sapiens

RGD ID: 407489749
ClinVar ID: CV3454986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEU2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 233,899,443
GRCh38 2 233,034,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005383.2:c.819G>C
NC_000002.12:g.233034733G>C
NC_000002.11:g.233899443G>C
NP_005374.2:p.Gln273His
 06/05/2024 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004641529 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NEU2 CLINVAR
OMIM 605528 CLINVAR