RGD:407493729 Rat Genome Database

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Variant: RGD:407493729 -  Homo sapiens

RGD ID: 407493729
ClinVar ID: CV3442455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBRSL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 133,067,326
GRCh38 12 132,490,740
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_001369669.1:p.Ala57Val
NP_001369670.1:p.Ala57Val
NP_001369672.1:p.Ala57Val
NM_001142641.2:c.170C>T
More... 		03/28/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004621126 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBRSL1 CLINVAR
OMIM 620123 CLINVAR