RGD:13498466 Rat Genome Database

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Variant: RGD:13498466 -  Homo sapiens

RGD ID: 13498466
RS ID: rs1555097898
ClinVar ID: CV476007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,160,530
GRCh38 11 108,289,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_135t1:c.4436+2T>C
LRG_135:g.71972T>C
NG_009830.1:g.71972T>C
NC_000011.10:g.108289803T>C
More... 		07/12/2022 splice donor variant pathogenic|likely pathogenic 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; 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_005271562
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23807571   PMID:25614872   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000573320 CLINVAR
  RCV000628004 CLINVAR
dbSNP (RS) rs1555097898 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 208900 CLINVAR
  607585 CLINVAR
SNOMED CT 68504005 CLINVAR
  699346009 CLINVAR