RGD:155721248 Rat Genome Database

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Variant: RGD:155721248 -  Homo sapiens

RGD ID: 155721248
ClinVar ID: CV1834549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AXIN2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 63,533,441
GRCh38 17 65,537,323
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.1712+1G>T
NM_004655.4:c.1712+1G>T
LRG_296:g.29300G>T
NG_012142.1:g.29300G>T
More... 		07/22/2021 splice donor variant likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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_011525320
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_011525321
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025192
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_017025193
Location:INTRON

Gene Symbol:AXIN2
Accession:NM_001363813
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436872
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436870
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436873
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436874
Location:INTRON

Gene Symbol:AXIN2
Accession:XM_047436871
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002398917 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene AXIN2 CLINVAR
OMIM 604025 CLINVAR
SNOMED CT 699346009 CLINVAR