RGD:597719442 Rat Genome Database

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Variant: RGD:597719442 -  Homo sapiens

RGD ID: 597719442
ClinVar ID: CV3669291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBRSL1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 133,159,966
GRCh38 12 132,583,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001382740.1:c.1990G>C
NM_001367871.1:c.2611G>C
NM_001382739.1:c.2665G>C
NM_001142641.2:c.2740G>C
More... 		08/12/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004918642 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBRSL1 CLINVAR
OMIM 620123 CLINVAR