RGD:407526461 Rat Genome Database

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Variant: RGD:407526461 -  Homo sapiens

RGD ID: 407526461
ClinVar ID: CV3454987
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEU2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 233,899,058
GRCh38 2 233,034,348
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.434C>A
NC_000002.12:g.233034348C>A
NC_000002.11:g.233899058C>A
NP_005374.2:p.Ala145Glu
06/02/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004654821 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NEU2 CLINVAR
OMIM 605528 CLINVAR