RGD:8690494 Rat Genome Database

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Variant: RGD:8690494 -  Homo sapiens

RGD ID: 8690494
RS ID: rs145754558
ClinVar ID: CV140445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 29,115,487
GRCh38 22 28,719,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000022.11:g.28719499G>A
NC_000022.10:g.29115487G>A
NG_008150.2:g.27368C>T
NM_007194.3:c.593-14C>T
More... 		11/13/2017 intron variant benign|likely benign 20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. AllHighlyPenetrant; Breast and ovarian cancer; Breast cancer, familial; Cancer breast; 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; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:XM_011529845
Location:5UTRS;INTRON

Gene Symbol:CHEK2
Accession:NM_001257387
Location:5UTRS;INTRON

Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452148
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529839
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441106
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452149
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441107
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_145862
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529844
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_017028560
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441104
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_007194
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001349956
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441105
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529842
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529840
Location:INTRON

Gene Symbol:CHEK2
Accession:XR_937806
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_007067955
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_937807
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_007067954
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25085752   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124262 CLINVAR
  RCV000387187 CLINVAR
  RCV000411378 CLINVAR
  RCV000580201 CLINVAR
  RCV001354198 CLINVAR
  RCV002225405 CLINVAR
dbSNP (RS) rs145754558 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  CN169374 CLINVAR
  CN239278 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254837009 CLINVAR
  254843006 CLINVAR
  699346009 CLINVAR