RGD:156091934 Rat Genome Database

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Variant: RGD:156091934 -  Homo sapiens

RGD ID: 156091934
ClinVar ID: CV2216697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STON2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 81,736,923
GRCh38 14 81,270,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256430.3:c.2613+91A>G
NM_001366850.2:c.2613+91A>G
NM_001366849.2:c.2784+91A>G
NM_001394390.1:c.2784+91A>G
More...
01/03/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STON2
Accession:XM_047431817
Location:INTRON

Gene Symbol:STON2
Accession:NM_001256430
Location:INTRON

Gene Symbol:STON2
Accession:NM_001394390
Location:INTRON

Gene Symbol:STON2
Accession:XM_011537240
Location:INTRON

Gene Symbol:STON2
Accession:XM_047431812
Location:INTRON

Gene Symbol:STON2
Accession:NM_001366849
Location:INTRON

Gene Symbol:STON2
Accession:XM_024449736
Location:INTRON

Gene Symbol:STON2
Accession:XM_047431815
Location:INTRON

Gene Symbol:STON2
Accession:XM_024449734
Location:INTRON

Gene Symbol:STON2
Accession:XM_011537242
Location:INTRON

Gene Symbol:STON2
Accession:NM_001366850
Location:INTRON

Gene Symbol:STON2
Accession:XM_047431816
Location:INTRON

Gene Symbol:STON2
Accession:XM_047431813
Location:INTRON

Gene Symbol:STON2
Accession:XM_024449735
Location:INTRON

Gene Symbol:STON2
Accession:XM_047431811
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002661410 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene STON2 CLINVAR
OMIM 608467 CLINVAR