RGD:14693352 Rat Genome Database

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Variant: RGD:14693352 -  Homo sapiens

RGD ID: 14693352
RS ID: rs114211101
ClinVar ID: CV620292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 134,125,846
GRCh38 8 133,113,602
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003235.5:c.7753C>T
NG_015832.1:g.251642C>T
NC_000008.11:g.133113602C>T
NC_000008.10:g.134125846C>T
More... 		07/12/2022 missense variant likely benign|uncertain significance 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:XM_017013795
Location:EXON

Gene Symbol:TG
Accession:XM_047422166
Location:EXON

Gene Symbol:TG
Accession:XM_017013794
Location:EXON

Gene Symbol:TG
Accession:XM_017013796
Location:EXON

Gene Symbol:TG
Accession:NM_003235
Location:EXON

Gene Symbol:TG
Accession:XM_005251038
Location:EXON

Gene Symbol:TG
Accession:XM_006716622
Location:EXON

Gene Symbol:TG
Accession:XM_017013793
Location:EXON

Gene Symbol:TG
Accession:XM_005251040
Location:INTRON

Gene Symbol:TG
Accession:XM_017013800
Location:INTRON

Gene Symbol:TG
Accession:XM_005251042
Location:INTRON

Gene Symbol:TG
Accession:XM_017013798
Location:INTRON

Gene Symbol:TG
Accession:XM_017013799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26742565   PMID:26777470   PMID:27498126   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778854 CLINVAR
  RCV000897827 CLINVAR
dbSNP (RS) rs114211101 CLINVAR
MedGen C0342194 CLINVAR
  C3661900 CLINVAR
NCBI Gene TG CLINVAR
OMIM 188450 CLINVAR
  274700 CLINVAR
SNOMED CT 23536000 CLINVAR