RGD:13512149 Rat Genome Database

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Variant: RGD:13512149 -  Homo sapiens

RGD ID: 13512149
ClinVar ID: CV483985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 90,967,785
GRCh38 8 89,955,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158t1:c.1125-2A>G
LRG_158:g.34115A>G
NG_008860.1:g.34115A>G
NC_000008.11:g.89955557T>C
More... 		05/09/2019 splice acceptor variant likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Gene Symbol:NBN
Accession:NM_002485
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421795
Location:INTRON

Variant Samples