RGD:156245926 Rat Genome Database

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Variant: RGD:156245926 -  Homo sapiens

RGD ID: 156245926
ClinVar ID: CV2044728
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  C11orf65  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 108,186,857
GRCh38 11 108,316,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351110.2:c.*39-7059T>C
NM_000051.4:c.6198+17A>G
NM_001351834.2:c.6198+17A>G
NM_001330368.2:c.641-7059T>C
More... 		07/07/2022 intron variant likely benign 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; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426467
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426459
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426470
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426478
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426468
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542641
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426472
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426461
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426473
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426458
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_152587
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426463
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426462
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426464
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426474
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_011542643
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426471
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426476
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:C11orf65
Accession:NM_001330368
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426465
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426460
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426477
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271412
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_005271413
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426466
Location:INTRON

Gene Symbol:C11orf65
Accession:XM_047426469
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002805844 CLINVAR
MedGen C0004135 CLINVAR
NCBI Gene ATM CLINVAR
  C11orf65 CLINVAR
OMIM 208900 CLINVAR
  607585 CLINVAR
SNOMED CT 68504005 CLINVAR