RGD:13608837 Rat Genome Database

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Variant: RGD:13608837 -  Homo sapiens

RGD ID: 13608837
RS ID: rs747959907
ClinVar ID: CV531766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AXIN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 63,534,314
GRCh38 17 65,538,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012142.1:g.28427C>T
LRG_296t1:c.1200+7C>T
NC_000017.11:g.65538196G>A
NC_000017.10:g.63534314G>A
More... 		06/21/2018 intron variant likely benign Oligodontia-colorectal cancer syndrome; TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AXIN2
Accession:XM_047436873
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525321
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025192
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436874
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525320
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_001363813
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436871
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436872
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525319
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025193
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436870
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_004655
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000640294 CLINVAR
dbSNP (RS) rs747959907 CLINVAR
MedGen C1837750 CLINVAR
NCBI Gene AXIN2 CLINVAR
OMIM 604025 CLINVAR
  608615 CLINVAR