RGD:151866009 Rat Genome Database

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Variant: RGD:151866009 -  Homo sapiens

RGD ID: 151866009
RS ID: rs1060501703
ClinVar ID: CV1495248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,141,789
GRCh38 11 108,271,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000051.4:c.2839-2A>C
NM_001351834.2:c.2839-2A>C
LRG_135:g.53231A>C
NG_009830.1:g.53231A>C
More... 		10/28/2022 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; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10873394   PMID:12552559   PMID:20678261   PMID:21792198   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001980724 CLINVAR
dbSNP (RS) rs1060501703 CLINVAR
MedGen C0004135 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 208900 CLINVAR
  607585 CLINVAR
SNOMED CT 68504005 CLINVAR