RGD:12838479 Rat Genome Database

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Variant: RGD:12838479 -  Homo sapiens

RGD ID: 12838479
RS ID: rs1057522554
ClinVar ID: CV371871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  C11orf65  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 108,180,874
GRCh38 11 108,310,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_135t1:c.5763-13C>T
LRG_135:g.92316C>T
NG_009830.1:g.92316C>T
NC_000011.10:g.108310147C>T
More... 		12/11/2018 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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:C11orf65
Accession:NM_001351110
Location:3UTRS;INTRON

Gene Symbol:C11orf65
Accession:XM_005271413
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426459
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426477
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426466
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426469
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426464
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426472
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426461
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426470
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_152587
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542641
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426471
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426462
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_001330368
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426478
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426463
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426476
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271412
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426467
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426458
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426474
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426465
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426468
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542643
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426473
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426460
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000427041 CLINVAR
  RCV001184474 CLINVAR
  RCV003105903 CLINVAR
dbSNP (RS) rs1057522554 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATM CLINVAR
  C11orf65 CLINVAR
OMIM 208900 CLINVAR
  607585 CLINVAR
SNOMED CT 68504005 CLINVAR
  699346009 CLINVAR