RGD:405277924 Rat Genome Database

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Variant: RGD:405277924 -  Homo sapiens

RGD ID: 405277924
ClinVar ID: CV3199386
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: FBRSL1  
Reference Nucleotide: GCCTGGGCCGCGAGC
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 12 133,159,872 - 133,159,887
GRCh38 12 132,583,286 - 132,583,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001382740.1:c.1903_1917del
NM_001367871.1:c.2524_2538del
NM_001382739.1:c.2578_2592del
NM_001142641.2:c.2653_2667del
More...
05/04/2023 inframe deletion benign|likely benign FBRSL1-related condition

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PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV003904782 CLINVAR
  RCV003994606 CLINVAR
MedGen C0039082 CLINVAR
NCBI Gene FBRSL1 CLINVAR
OMIM 620123 CLINVAR