RGD:12738738 Rat Genome Database

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Variant: RGD:12738738 -  Homo sapiens

RGD ID: 12738738
RS ID: rs61753717
ClinVar ID: CV357662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860438  NBN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 90,960,121
GRCh38 8 89,947,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001024688.3:c.1600-1G>A
NM_002485.5:c.1846-1G>A
LRG_158t1:c.1846-1G>A
LRG_158:g.41779G>A
More... 		09/10/2021 splice acceptor variant pathogenic|likely pathogenic|uncertain significance infancy 1-9 / 100 000 Ataxia telangiectasia variant V1; Berlin Breakage syndrome; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency, microcephaly with normal intelligence; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; Malignant tumor of stomach; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies; Neoplastic Syndromes, Hereditary; Nijmegen breakage syndrome; Nonsyndromal microcephaly autosomal recessive with normal intelligence; Seemanova syndrome 2; SEEMANOVA SYNDROME II; Stomach cancer; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Stomach cancer  (IAGP)

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

Gene Symbol:NBN
Accession:XM_047421795
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9590180   PMID:16199547   PMID:16415040   PMID:28492532   PMID:30287823   PMID:33471991   PMID:36988593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000411891 CLINVAR
  RCV000572719 CLINVAR
  RCV003168596 CLINVAR
dbSNP (RS) rs61753717 CLINVAR
MedGen C0024623 CLINVAR
  C0027672 CLINVAR
  C0398791 CLINVAR
NCBI Gene LOC126860438 CLINVAR
  NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
  613659 CLINVAR
SNOMED CT 234638009 CLINVAR
  363349007 CLINVAR
  699346009 CLINVAR