RGD:11656984 Rat Genome Database

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Variant: RGD:11656984 -  Homo sapiens

RGD ID: 11656984
RS ID: rs886054291
ClinVar ID: CV349552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC5A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 18,005,025
GRCh38 19 17,894,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012930.1:g.27244C>T
NC_000019.10:g.17894216C>T
NC_000019.9:g.18005025C>T
NM_000453.3:c.*339C>T
More... 		06/14/2016 3 prime utr variant uncertain significance HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1; IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC5A5
Accession:XM_017027158
Location:3UTRS;EXON

Gene Symbol:SLC5A5
Accession:XM_011528193
Location:3UTRS;EXON

Gene Symbol:SLC5A5
Accession:XM_011528192
Location:3UTRS;EXON

Gene Symbol:SLC5A5
Accession:NM_000453
Location:3UTRS;EXON

Gene Symbol:SLC5A5
Accession:XM_011528194
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000337756 CLINVAR
dbSNP (RS) rs886054291 CLINVAR
MedGen C1848805 CLINVAR
NCBI Gene SLC5A5 CLINVAR
OMIM 274400 CLINVAR
  601843 CLINVAR