RGD:15140454 Rat Genome Database

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Variant: RGD:15140454 -  Homo sapiens

RGD ID: 15140454
RS ID: rs1601824377
ClinVar ID: CV788272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 29,121,119
GRCh38 22 28,725,131
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257387.2:c.-333-7A>G
NM_001349956.2:c.444+112A>G
NM_007194.4:c.445-7A>G
NM_145862.2:c.445-7A>G
More...
12/19/2018 intron variant likely benign Breast cancer, familial
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:NM_001257387
Location:5UTRS;INTRON

Gene Symbol:CHEK2
Accession:XM_011529845
Location:5UTRS;INTRON

Gene Symbol:CHEK2
Accession:NM_145862
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_007194
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529840
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529842
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529839
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529844
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_017028560
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001349956
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452149
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452148
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441106
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441104
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441105
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441107
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

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

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_007067954
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001431082 CLINVAR
dbSNP (RS) rs1601824377 CLINVAR
MedGen C0346153 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254843006 CLINVAR