RGD:8658402 Rat Genome Database

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Variant: RGD:8658402 -  Homo sapiens

RGD ID: 8658402
RS ID: rs142082313
ClinVar ID: CV133432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRE11  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 94,180,380
GRCh38 11 94,447,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_85t1:c.1783+5G>C
LRG_85:g.51661G>C
NG_007261.1:g.51661G>C
NC_000011.10:g.94447214C>G
More... 		12/07/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters AllHighlyPenetrant; Breast and ovarian cancer; Cancer predisposition; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:MRE11
Accession:XM_047426968
Location:INTRON

Gene Symbol:MRE11
Accession:XM_006718842
Location:INTRON

Gene Symbol:MRE11
Accession:XM_011542837
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426967
Location:INTRON

Gene Symbol:MRE11
Accession:XM_005274008
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005590
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005591
Location:INTRON

Gene Symbol:MRE11
Accession:NM_001330347
Location:INTRON

Gene Symbol:MRE11
Accession:XM_017017772
Location:INTRON

Gene Symbol:MRE11
Accession:XR_007062482
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_947828
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062483
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062484
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115910 CLINVAR
  RCV000589610 CLINVAR
  RCV001080166 CLINVAR
  RCV001287216 CLINVAR
  RCV002225331 CLINVAR
  RCV002477282 CLINVAR
  RCV003935108 CLINVAR
dbSNP (RS) rs142082313 CLINVAR
MedGen C0027672 CLINVAR
  C0677776 CLINVAR
  C1858391 CLINVAR
  C3661900 CLINVAR
  C4012790 CLINVAR
  CN169374 CLINVAR
NCBI Gene MRE11A CLINVAR
OMIM 600814 CLINVAR
  604391 CLINVAR
SNOMED CT 699346009 CLINVAR