rs1555009945 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
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Variant: rs1555009945 - Homo sapiens
RGD ID:
13489288
RS ID:
rs1555009945
ClinVar ID:
CV476147
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
MRE11
Reference Nucleotide:
T
Variant Nucleotide:
G
Position
Assembly
Chr
Position
GRCh37
11
94,194,204
GRCh38
11
94,461,038
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
LRG_85t1:c.1226-2A>C
LRG_85:g.37837A>C
NG_007261.1:g.37837A>C
NC_000011.10:g.94461038T>G
NC_000011.9:g.94194204T>G
NM_001330347.2:c.1226-2A>C
NM_005590.4:c.1226-2A>C
NM_005591.3:c.1226-2A>C
NM_005591.4:c.1226-2A>C
More...
07/27/2016
splice acceptor variant
likely pathogenic
Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV476147
Human
Hereditary Neoplastic Syndromes
IAGP
8554872
ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome
ClinVar
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Disease Annotations
Click to see Annotation Summary View
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Hereditary Neoplastic Syndromes
(IAGP)
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Variant Details
Variant Transcripts
Gene Symbol:
MRE11
Accession:
XM_047426967
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XM_017017772
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XM_047426968
Location:
INTRON
Gene Symbol:
MRE11
Accession:
NM_001330347
Location:
INTRON
Gene Symbol:
MRE11
Accession:
NM_005591
Location:
INTRON
Gene Symbol:
MRE11
Accession:
NM_005590
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XM_005274008
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XM_006718842
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XM_011542837
Location:
INTRON
Gene Symbol:
MRE11
Accession:
XR_947828
Location:
INTRON;NON-CODING
Gene Symbol:
MRE11
Accession:
XR_007062482
Location:
INTRON;NON-CODING
Gene Symbol:
MRE11
Accession:
XR_007062484
Location:
INTRON;NON-CODING
Gene Symbol:
MRE11
Accession:
XR_007062483
Location:
INTRON;NON-CODING
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV000569190
CLINVAR
dbSNP (RS)
rs1555009945
CLINVAR
MedGen
C0027672
CLINVAR
NCBI Gene
MRE11
CLINVAR
OMIM
600814
CLINVAR
SNOMED CT
699346009
CLINVAR
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