RGD:407526230 Rat Genome Database

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Variant: RGD:407526230 -  Homo sapiens

RGD ID: 407526230
ClinVar ID: CV3475127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 52,550,590
GRCh38 3 52,516,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015136.3:c.4273G>A
NC_000003.12:g.52516574G>A
NC_000003.11:g.52550590G>A
NM_015136.2:c.4273G>A
More... 		03/22/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004679571 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene STAB1 CLINVAR
OMIM 608560 CLINVAR