RGD:12897620 Rat Genome Database

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Variant: RGD:12897620 -  Homo sapiens

RGD ID: 12897620
RS ID: rs754864893
ClinVar ID: CV396725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 90,990,555
GRCh38 8 89,978,327
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_002485.4:c.481-4G>A
LRG_158t1:c.481-4G>A
LRG_158:g.11345G>A
NG_008860.1:g.11345G>A
More... 		06/24/2022 intron variant benign|likely benign|conflicting interpretations of pathogenicity infancy 1-9 / 100 000 Acute lymphoblastic leukemia; Acute lymphocytic leukemia; 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; Leukemia, acute lymphoblastic, somatic; Lymphoblastic leukemia; 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; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:XM_047421795
Location:5UTRS;INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:NM_002485
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000465095 CLINVAR
  RCV000775390 CLINVAR
  RCV003316627 CLINVAR
dbSNP (RS) rs754864893 CLINVAR
MedGen C0023449 CLINVAR
  C0027672 CLINVAR
  C0398791 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
  613065 CLINVAR
SNOMED CT 234638009 CLINVAR
  699346009 CLINVAR
  91857003 CLINVAR