RGD:126771732 Rat Genome Database

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Variant: RGD:126771732 -  Homo sapiens

RGD ID: 126771732
RS ID: rs2043981901
ClinVar ID: CV1013052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AXIN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 63,534,464
GRCh38 17 65,538,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363813.1:c.1060-3T>C
NM_004655.4:c.1060-3T>C
LRG_296:g.28277T>C
NG_012142.1:g.28277T>C
More... 		03/11/2020 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Oligodontia-colorectal cancer syndrome; TOOTH AGENESIS-COLORECTAL CANCER SYNDROME; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AXIN2
Accession:XM_011525320
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025193
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436872
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525319
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436870
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_004655
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525321
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025192
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436873
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436871
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436874
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_001363813
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001323326 CLINVAR
  RCV002412036 CLINVAR
dbSNP (RS) rs2043981901 CLINVAR
MedGen C0027672 CLINVAR
  C1837750 CLINVAR
NCBI Gene AXIN2 CLINVAR
OMIM 604025 CLINVAR
  608615 CLINVAR
SNOMED CT 699346009 CLINVAR