RGD:13541237 Rat Genome Database

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Variant: RGD:13541237 -  Homo sapiens

RGD ID: 13541237
RS ID: rs140679811
ClinVar ID: CV507245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RIN2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 19,870,320
GRCh38 20 19,889,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018993.4:c.57+18T>C
NC_000020.11:g.19889676T>C
NC_000020.10:g.19870320T>C
NM_001378238.1:c.-489+18T>C
More... 		11/28/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:RIN2
Accession:NM_001378238
Location:5UTRS;INTRON

Gene Symbol:RIN2
Accession:XM_047440211
Location:INTRON

Gene Symbol:RIN2
Accession:NM_001242581
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027892
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027893
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027889
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440212
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027890
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440214
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440216
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440215
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440210
Location:INTRON

Gene Symbol:RIN2
Accession:XM_006723577
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027888
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440209
Location:INTRON

Gene Symbol:RIN2
Accession:XM_011529255
Location:INTRON

Gene Symbol:RIN2
Accession:XM_017027887
Location:INTRON

Gene Symbol:RIN2
Accession:XM_047440213
Location:INTRON

Gene Symbol:RIN2
Accession:NM_018993
Location:INTRON

Gene Symbol:RIN2
Accession:XM_011529259
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000615877 CLINVAR
  RCV002063191 CLINVAR
dbSNP (RS) rs140679811 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene RIN2 CLINVAR
OMIM 610222 CLINVAR