RGD:11091616 Rat Genome Database

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Variant: RGD:11091616 -  Homo sapiens

RGD ID: 11091616
RS ID: rs876658669
ClinVar ID: CV234133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 108,155,199
GRCh38 11 108,284,472
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.3992A>G
LRG_135:g.66641A>G
NG_009830.1:g.66641A>G
NC_000011.10:g.108284472A>G
More... 		10/11/2021 missense variant uncertain significance adult|childhood|infancy 1-5 / 10 000 AT, COMPLEMENTATION GROUP C; Ataxia-telangiectasia; 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; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATM
Accession:XM_047426977
Location:EXON

Gene Symbol:ATM
Accession:XM_011542844
Location:EXON

Gene Symbol:ATM
Accession:NM_000051
Location:EXON

Gene Symbol:ATM
Accession:XM_006718843
Location:EXON

Gene Symbol:ATM
Accession:XM_005271562
Location:EXON

Gene Symbol:ATM
Accession:XM_011542842
Location:EXON

Gene Symbol:ATM
Accession:XM_047426979
Location:EXON

Gene Symbol:ATM
Accession:XM_047426976
Location:EXON

Gene Symbol:ATM
Accession:NM_001351834
Location:EXON

Gene Symbol:ATM
Accession:XM_047426978
Location:EXON

Gene Symbol:ATM
Accession:XM_011542843
Location:EXON

Gene Symbol:ATM
Accession:XM_047426981
Location:EXON

Gene Symbol:ATM
Accession:XM_017017790
Location:EXON

Gene Symbol:ATM
Accession:XM_011542840
Location:EXON

Gene Symbol:ATM
Accession:XM_047426975
Location:EXON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000217518 CLINVAR
  RCV000226095 CLINVAR
  RCV002288856 CLINVAR
dbSNP (RS) rs876658669 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 114480 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR