RGD:13511485 Rat Genome Database

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Variant: RGD:13511485 -  Homo sapiens

RGD ID: 13511485
RS ID: rs1483241325
ClinVar ID: CV485570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 29,091,113
GRCh38 22 28,695,125
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.28695125A>T
NC_000022.10:g.29091113A>T
NM_007194.4:c.1375+2T>A
NG_008150.2:g.51742T>A
More... 		09/02/2018 splice donor variant likely pathogenic Breast cancer, familial; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441104
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441107
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001257387
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452148
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529842
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441106
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529844
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529840
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529839
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001349956
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_007194
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441105
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_145862
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529845
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_017028560
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452149
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21876083   PMID:24713400   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000582469 CLINVAR
  RCV000694321 CLINVAR
dbSNP (RS) rs1483241325 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR