RGD:13471313 Rat Genome Database

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Variant: RGD:13471313 -  Homo sapiens

RGD ID: 13471313
RS ID: rs1398616877
ClinVar ID: CV444717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  C11orf65  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 108,206,571
GRCh38 11 108,335,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_135:g.118013G>A
NC_000011.10:g.108335844G>A
NM_000051.3:c.8152-1G>A
LRG_135t1:c.8152-1G>A
More... 		07/07/2021 intron variant|splice acceptor 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; 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_005271562
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426474
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_001351110
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426467
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426464
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542643
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426463
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_001330368
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426462
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426459
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426458
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426478
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426465
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542641
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426471
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426472
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_152587
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426476
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426460
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426477
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271413
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426461
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271412
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426473
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426468
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426466
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426470
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426469
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:C11orf65
Accession:NR_147053
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16189143   PMID:16199547   PMID:19431188   PMID:22869595   PMID:23807571   PMID:25614872   PMID:25741868   PMID:25741916   PMID:28492532   PMID:28975465   PMID:31130284  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000523454 CLINVAR
  RCV000574836 CLINVAR
  RCV001060841 CLINVAR
  RCV003470658 CLINVAR
dbSNP (RS) rs1398616877 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATM CLINVAR
  C11orf65 CLINVAR
OMIM 114480 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR