RGD:9833854 Rat Genome Database

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Variant: RGD:9833854 -  Homo sapiens

RGD ID: 9833854
RS ID: rs730881346
ClinVar ID: CV180411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 108,128,198
GRCh38 11 108,257,471
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
LRG_135t1:c.2251-10T>G
LRG_135:g.39640T>G
NG_009830.1:g.39640T>G
NC_000011.10:g.108257471T>G
More... 		04/22/2021 intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance childhood|neonatal/infancy 1-5 / 10 000|1-9 / 1 000 000 AT, COMPLEMENTATION GROUP C; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A; Ataxia-telangiectasia, complementation group D; Ataxia-telangiectasia, complementation group E; ATAXIA-TELANGIECTASIA, FRESNO VARIANT; Breast cancer, familial; Cancer predisposition; Cerebello-oculocutaneous telangiectasia; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9443866   PMID:9463314   PMID:10330348   PMID:10873394   PMID:12497634   PMID:12552559   PMID:21792198   PMID:25741868   PMID:26681312   PMID:28182994   PMID:28281021   PMID:28492532  
PMID:28779002   PMID:29922827   PMID:31447099   PMID:32081490   PMID:34539671  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000159691 CLINVAR
  RCV000161929 CLINVAR
  RCV000515310 CLINVAR
  RCV000580644 CLINVAR
  RCV001253609 CLINVAR
dbSNP (RS) rs730881346 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 114480 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR