RGD:14708228 Rat Genome Database

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Variant: RGD:14708228 -  Homo sapiens

RGD ID: 14708228
RS ID: rs748208644
ClinVar ID: CV653333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AXIN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 63,530,025
GRCh38 17 65,533,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.63530025C>T
NM_004655.3:c.2405+5G>A
LRG_296t1:c.2405+5G>A
NM_001363813.1:c.2210+5G>A
More... 		09/11/2018 intron variant uncertain significance 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_011525319
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025193
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525321
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_004655
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436872
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025192
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436873
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436870
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

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 RCV000792545 CLINVAR
dbSNP (RS) rs748208644 CLINVAR
MedGen C1837750 CLINVAR
NCBI Gene AXIN2 CLINVAR
OMIM 604025 CLINVAR
  608615 CLINVAR