RGD:26907305 Rat Genome Database

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Variant: RGD:26907305 -  Homo sapiens

RGD ID: 26907305
RS ID: rs1555915298
ClinVar ID: CV853019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 29,095,825
GRCh38 22 28,699,837
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007194.4:c.1008+1G>C
NM_145862.2:c.1008+1G>C
NM_001005735.2:c.1137+1G>C
NM_001257387.2:c.345+1G>C
More... 		02/04/2019 splice donor variant likely pathogenic Breast cancer, familial
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:NM_007194
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001349956
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452149
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001257387
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529844
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529840
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529839
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441106
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441104
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529842
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441107
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452148
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_145862
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441105
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529845
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_017028560
Location:INTRON

Gene Symbol:CHEK2
Accession:XR_007067954
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_937807
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001037898 CLINVAR
dbSNP (RS) rs1555915298 CLINVAR
MedGen C0346153 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254843006 CLINVAR