RGD:11051269 Rat Genome Database

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Variant: RGD:11051269 -  Homo sapiens

RGD ID: 11051269
RS ID: rs869312610
ClinVar ID: CV225623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 90,992,714
GRCh38 8 89,980,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158:g.9186G>A
NG_008860.1:g.9186G>A
NC_000008.11:g.89980486C>T
NC_000008.10:g.90992714C>T
More... 		12/01/2015 intron variant likely benign 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:XM_047421795
Location:5UTRS;INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:NM_002485
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000209789 CLINVAR
dbSNP (RS) rs869312610 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 602667 CLINVAR
SNOMED CT 699346009 CLINVAR