RGD:11578102 Rat Genome Database

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Variant: RGD:11578102 -  Homo sapiens

RGD ID: 11578102
RS ID: rs373810250
ClinVar ID: CV282328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  PAX8-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 113,994,166
GRCh38 2 113,236,589
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.47333G>A
NC_000002.12:g.113236589C>T
NC_000002.11:g.113994166C>T
NM_013953.4:c.777+4962G>A
More... 		06/14/2016 intron 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-AS1
Accession:NR_015377
Location:EXON;NON-CODING

Gene Symbol:PAX8
Accession:NM_013953
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013992
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013952
Location:INTRON

Gene Symbol:PAX8
Accession:NM_003466
Location:INTRON

Gene Symbol:PAX8-AS1
Accession:NR_047570
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000274260 CLINVAR
dbSNP (RS) rs373810250 CLINVAR
MedGen C1869118 CLINVAR
NCBI Gene PAX8 CLINVAR
  PAX8-AS1 CLINVAR
OMIM 167415 CLINVAR
  218700 CLINVAR