RGD:405277924 Rat Genome Database
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Summary
ClinVar Data
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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
Annotation
Click to see Annotation Summary View
ClinVar Data
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
NC_000012.12:g.132583293_132583307del
NC_000012.11:g.133159879_133159893del
NM_001142641.1:c.2653_2667del15
NP_001369669.1:p.Arg635_Gly639del
NP_001354800.1:p.Arg842_Gly846del
NP_001369668.1:p.Arg860_Gly864del
NP_001136113.1:p.Arg885_Gly889del
More...
05/04/2023
inframe deletion
benign|likely benign
FBRSL1-related condition
Variant Details
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
25741868
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV003904782
CLINVAR
RCV003994606
CLINVAR
MedGen
C0039082
CLINVAR
NCBI Gene
FBRSL1
CLINVAR
OMIM
620123
CLINVAR
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