RGD:14728009 Rat Genome Database

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Variant: RGD:14728009 -  Homo sapiens

RGD ID: 14728009
RS ID: rs1591701752
ClinVar ID: CV652123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 108,170,437
GRCh38 11 108,299,710
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.5006-4G>A
LRG_135t1:c.5006-4G>A
NM_001351834.2:c.5006-4G>A
LRG_135:g.81879G>A
More... 		12/19/2022 intron variant likely benign|uncertain significance 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:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000799869 CLINVAR
  RCV003166185 CLINVAR
dbSNP (RS) rs1591701752 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 208900 CLINVAR
  607585 CLINVAR
SNOMED CT 68504005 CLINVAR
  699346009 CLINVAR