RGD:13489569 Rat Genome Database

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Variant: RGD:13489569 -  Homo sapiens

RGD ID: 13489569
RS ID: rs1057517209
ClinVar ID: CV474777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 90,970,952
GRCh38 8 89,958,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158t1:c.1124+1G>C
LRG_158:g.30948G>C
NG_008860.1:g.30948G>C
NC_000008.11:g.89958724C>G
More...
08/10/2016 splice donor variant likely pathogenic 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; 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


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

Gene Symbol:NBN
Accession:NM_001024688
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:XM_047421795
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9590180   PMID:16199547   PMID:16415040   PMID:28492532   PMID:29706558  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000569288 CLINVAR
  RCV001853723 CLINVAR
dbSNP (RS) rs1057517209 CLINVAR
MedGen C0027672 CLINVAR
  C0398791 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
SNOMED CT 234638009 CLINVAR
  699346009 CLINVAR