RGD:405204133 Rat Genome Database

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Variant: RGD:405204133 -  Homo sapiens

RGD ID: 405204133
ClinVar ID: CV2986226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 7,243,487
GRCh38 X 7,325,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000351.7:c.1189G>A
NM_001320752.2:c.1189G>A
NM_001320753.2:c.1189G>A
NM_001320754.2:c.1189G>A
More...
12/30/2022 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003678491 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene STS CLINVAR
OMIM 300747 CLINVAR