RGD:405188092 Rat Genome Database

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Variant: RGD:405188092 -  Homo sapiens

RGD ID: 405188092
ClinVar ID: CV3121268
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TJP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 71,850,925
GRCh38 9 69,236,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1201t1:c.1781-19C>T
NM_001369870.1:c.1706-19C>T
NM_001170414.2:c.1712-19C>T
NM_001369871.1:c.1712-19C>T
More... 		12/03/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TJP2
Accession:NM_004817
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369874
Location:INTRON

Gene Symbol:TJP2
Accession:XM_011519207
Location:INTRON

Gene Symbol:TJP2
Accession:XM_047424095
Location:INTRON

Gene Symbol:TJP2
Accession:XM_047424090
Location:INTRON

Gene Symbol:TJP2
Accession:XM_047424092
Location:INTRON

Gene Symbol:TJP2
Accession:XM_047424091
Location:INTRON

Gene Symbol:TJP2
Accession:NM_201629
Location:INTRON

Gene Symbol:TJP2
Accession:XM_011519206
Location:INTRON

Gene Symbol:TJP2
Accession:XM_011519208
Location:INTRON

Gene Symbol:TJP2
Accession:XM_011519209
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369873
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001170415
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369875
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001170416
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369872
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369870
Location:INTRON

Gene Symbol:TJP2
Accession:XM_047424094
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001170414
Location:INTRON

Gene Symbol:TJP2
Accession:NM_001369871
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003820724 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TJP2 CLINVAR
OMIM 607709 CLINVAR