RGD:151232310 Rat Genome Database

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Variant: RGD:151232310 -  Homo sapiens

RGD ID: 151232310
RS ID: rs2117333857
ClinVar ID: CV1319612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASTOR3P  STAG3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 99,799,665
GRCh38 7 100,202,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282718.2:c.2220+1G>A
NM_001282716.1:c.2394+1G>A
NM_001282717.2:c.2394+1G>A
NR_166147.1:n.1324C>T
More... 		12/20/2021 non-coding transcript variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASTOR3P
Accession:NR_166147
Location:EXON;NON-CODING

Gene Symbol:CASTOR3P
Accession:NR_028040
Location:EXON;NON-CODING

Gene Symbol:CASTOR3P
Accession:NR_028039
Location:EXON;NON-CODING

Gene Symbol:STAG3
Accession:XM_017011687
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419788
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419787
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419794
Location:INTRON

Gene Symbol:STAG3
Accession:NM_001282717
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419790
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419795
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419791
Location:INTRON

Gene Symbol:STAG3
Accession:NM_001282718
Location:INTRON

Gene Symbol:STAG3
Accession:NM_001375438
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419792
Location:INTRON

Gene Symbol:STAG3
Accession:XM_017011683
Location:INTRON

Gene Symbol:STAG3
Accession:XM_017011685
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419786
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419793
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419789
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419796
Location:INTRON

Gene Symbol:STAG3
Accession:XM_017011686
Location:INTRON

Gene Symbol:STAG3
Accession:NM_012447
Location:INTRON

Gene Symbol:STAG3
Accession:NM_001282716
Location:INTRON

Gene Symbol:STAG3
Accession:XM_017011684
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419797
Location:INTRON

Gene Symbol:STAG3
Accession:XM_047419798
Location:INTRON

Gene Symbol:CASTOR3P
Accession:NR_028038
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:31125047  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001797556 CLINVAR
dbSNP (RS) rs2117333857 CLINVAR
MedGen C5562048 CLINVAR
NCBI Gene STAG3 CLINVAR
OMIM 608489 CLINVAR
  619672 CLINVAR
OMIM Allele 608489.0007 CLINVAR