RGD:11088513 Rat Genome Database

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Variant: RGD:11088513 -  Homo sapiens

RGD ID: 11088513
RS ID: rs876659763
ClinVar ID: CV233681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 90,976,739
GRCh38 8 89,964,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_158t1:c.897-4A>G
LRG_158:g.25161A>G
NG_008860.1:g.25161A>G
NC_000008.11:g.89964511T>C
More... 		06/24/2015 intron variant uncertain significance adult Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:NM_002485
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421795
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000213672 CLINVAR
dbSNP (RS) rs876659763 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 602667 CLINVAR
SNOMED CT 699346009 CLINVAR