RGD:28869230 Rat Genome Database

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Variant: RGD:28869230 -  Homo sapiens

RGD ID: 28869230
RS ID: rs76286566
ClinVar ID: CV900445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 133,900,827
GRCh38 8 132,888,582
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003235.4:c.2761+14T>C
NG_015832.1:g.26623T>C
NC_000008.11:g.132888582T>C
NC_000008.10:g.133900827T>C
More... 		01/31/2024 intron variant benign|likely benign HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3; none provided; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TG
Accession:NM_003235
Location:INTRON

Gene Symbol:TG
Accession:XM_005251040
Location:INTRON

Gene Symbol:TG
Accession:XM_005251042
Location:INTRON

Gene Symbol:TG
Accession:XM_005251038
Location:INTRON

Gene Symbol:TG
Accession:XM_006716622
Location:INTRON

Gene Symbol:TG
Accession:XM_017013794
Location:INTRON

Gene Symbol:TG
Accession:XM_017013793
Location:INTRON

Gene Symbol:TG
Accession:XM_017013795
Location:INTRON

Gene Symbol:TG
Accession:XM_017013796
Location:INTRON

Gene Symbol:TG
Accession:XM_017013798
Location:INTRON

Gene Symbol:TG
Accession:XM_017013799
Location:INTRON

Gene Symbol:TG
Accession:XM_017013800
Location:INTRON

Gene Symbol:TG
Accession:XM_047422166
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001162995 CLINVAR
  RCV003727926 CLINVAR
dbSNP (RS) rs76286566 CLINVAR
MedGen C0342194 CLINVAR
  C3661900 CLINVAR
NCBI Gene TG CLINVAR
OMIM 188450 CLINVAR
  274700 CLINVAR
SNOMED CT 23536000 CLINVAR