RGD:11650709 Rat Genome Database

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Variant: RGD:11650709 -  Homo sapiens

RGD ID: 11650709
RS ID: rs886054788
ClinVar ID: CV283946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 113,975,172
GRCh38 2 113,217,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012384.1:g.66327C>G
NC_000002.12:g.113217595G>C
NC_000002.11:g.113975172G>C
NM_003466.3:c.*938C>G
More... 		06/14/2016 3 prime utr variant uncertain significance Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAX8
Accession:NM_013952
Location:3UTRS;EXON

Gene Symbol:PAX8
Accession:NM_003466
Location:3UTRS;EXON

Gene Symbol:PAX8
Accession:NM_013953
Location:3UTRS;EXON

Gene Symbol:PAX8
Accession:NM_013992
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000294715 CLINVAR
dbSNP (RS) rs886054788 CLINVAR
MedGen C1869118 CLINVAR
NCBI Gene PAX8 CLINVAR
OMIM 167415 CLINVAR
  218700 CLINVAR