RGD:12884030 Rat Genome Database

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Variant: RGD:12884030 -  Homo sapiens

RGD ID: 12884030
RS ID: rs377423720
ClinVar ID: CV402327
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AXIN2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 63,530,026
GRCh38 17 65,533,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_296t1:c.2405+4A>C
LRG_296:g.32715A>C
NG_012142.1:g.32715A>C
NC_000017.11:g.65533908T>G
More... 		04/26/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance <1 / 1 000 000 Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; 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:NM_004655
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525319
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525321
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025193
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_001363813
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436870
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436873
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025192
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436872
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436874
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436871
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525320
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000462722 CLINVAR
  RCV001613295 CLINVAR
  RCV002257714 CLINVAR
dbSNP (RS) rs377423720 CLINVAR
MedGen C0027672 CLINVAR
  C1837750 CLINVAR
  C3661900 CLINVAR
NCBI Gene AXIN2 CLINVAR
OMIM 604025 CLINVAR
  608615 CLINVAR
SNOMED CT 699346009 CLINVAR