RGD:407526223 Rat Genome Database

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Variant: RGD:407526223 -  Homo sapiens

RGD ID: 407526223
ClinVar ID: CV3475124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127397625  STAB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 52,538,521
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.1195G>A
NG_099594.1:g.107G>A
NG_099593.1:g.613G>A
NC_000003.12:g.52504505G>A
More... 		03/19/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004679569 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene STAB1 CLINVAR
OMIM 608560 CLINVAR