RGD:156230875 Rat Genome Database
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Summary
ClinVar Data
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Variant: RGD:156230875 - Homo sapiens
RGD ID:
156230875
ClinVar ID:
CV2085257
Genic Status:
GENIC
Type:
insertion
(SO:0000667)
Associated Genes:
RIMS1
Reference Nucleotide:
-
Variant Nucleotide:
CTC
Position
Assembly
Chr
Position
GRCh37
6
72,806,744
GRCh38
6
72,097,041
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_001350412.1:c.258_260dup
NM_001350411.1:c.336_338dup
NM_001350413.1:c.339_341dup
NM_014989.7:c.339_341dup
NG_016209.1:g.215096_215098dup
NG_016209.2:g.215494_215496dup
NC_000006.12:g.72097042_72097044dup
NC_000006.11:g.72806743_72806744insCTC
NC_000006.11:g.72806745_72806747dup
NP_001337340.1:p.Pro113_Thr114insPro
NP_001337342.1:p.Pro114_Thr115insPro
NP_055804.2:p.Pro114_Thr115insPro
NP_001337341.1:p.Pro87_Thr88insPro
More...
09/02/2022
inframe_insertion
uncertain significance
none provided
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:
28492532
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Additional Information
External Database Links
1 to 4 of 4 rows
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5
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Database
Acc Id
Source(s)
ClinVar
RCV002876232
CLINVAR
MedGen
C3661900
CLINVAR
NCBI Gene
RIMS1
CLINVAR
OMIM
606629
CLINVAR
1 to 4 of 4 rows
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