RGD:13471178 Rat Genome Database

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Variant: RGD:13471178 -  Homo sapiens

RGD ID: 13471178
RS ID: rs786203796
ClinVar ID: CV444711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,175,400
GRCh38 11 108,304,673
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_135t1:c.5497-2A>C
LRG_135:g.86842A>C
NG_009830.1:g.86842A>C
NC_000011.10:g.108304673A>C
More... 		01/08/2024 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; Breast and ovarian cancer; Breast cancer, familial; Cancer predisposition; Cerebello-oculocutaneous telangiectasia; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10330348   PMID:14695534   PMID:21665257   PMID:25741868   PMID:28492532   PMID:31843900   PMID:32125938  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000521216 CLINVAR
  RCV000557758 CLINVAR
  RCV000563654 CLINVAR
  RCV001171404 CLINVAR
  RCV003483650 CLINVAR
dbSNP (RS) rs786203796 CLINVAR
MedGen C0004135 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 114480 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR