RGD:8657960 Rat Genome Database

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Variant: RGD:8657960 -  Homo sapiens

RGD ID: 8657960
RS ID: rs587779866
ClinVar ID: CV132904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  C11orf65  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,202,604
GRCh38 11 108,331,877
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_135:g.114046A>C
NG_009830.1:g.114046A>C
NC_000011.10:g.108331877A>C
LRG_135t1:c.7630-2A>C
More... 		12/09/2022 intron variant|splice acceptor variant pathogenic|likely pathogenic childhood|infancy 1-5 / 10 000 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; Colorectal cancer, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome; Malignant Colorectal Neoplasm; Neoplastic Syndromes, Hereditary; none provided; Toe walking; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
Tip-toe gait  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:C11orf65
Accession:NM_001351110
Location:3UTRS;INTRON

Gene Symbol:C11orf65
Accession:XM_047426470
Location:3UTRS;INTRON

Gene Symbol:C11orf65
Accession:NM_152587
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271413
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271412
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542643
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542641
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_001330368
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426461
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426467
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426463
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426473
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_047426466
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426460
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426471
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426476
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426477
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426469
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426464
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426478
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426474
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426472
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426465
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426468
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:100011   PMID:9443866   PMID:9887333   PMID:10330348   PMID:10817650   PMID:10980530   PMID:12646636   PMID:15039971   PMID:16266405   PMID:21665257   PMID:21833744   PMID:25374739  
PMID:25614872   PMID:25741868   PMID:26681312   PMID:27433846   PMID:28492532   PMID:29360161   PMID:30067863   PMID:30772474   PMID:31159747   PMID:32295079   PMID:33050356   PMID:33330270  
PMID:34199532   PMID:35716007  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115253 CLINVAR
  RCV000206201 CLINVAR
  RCV000212074 CLINVAR
  RCV000515371 CLINVAR
  RCV001253391 CLINVAR
  RCV001270954 CLINVAR
  RCV002463639 CLINVAR
  RCV003319320 CLINVAR
dbSNP (RS) rs587779866 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C0346629 CLINVAR
  C0427144 CLINVAR
  C3661900 CLINVAR
  CN221562 CLINVAR
NCBI Gene ATM CLINVAR
  C11orf65 CLINVAR
OMIM 114480 CLINVAR
  114500 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR